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2017

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MM, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
Genetic heterogeneity in Pakistani microcephaly families revisited.
Clin Genet. 2016.

PubMed PMID: 28004384

Ardicli D, Gocmen R, Talim B, Sprute R, Haliloglu G, Cirak S, Topaloglu H.
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
Neuromuscul Disord. 2017;27(3):239-242.

PubMed PMID: 28109637

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, Müller RU.
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
BMC Med Genet. 2017;18(1):53.

PubMed PMID: 28499369

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2016.

PubMed PMID: 27289364

Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Am J Med Genet A. 2017;173(3):806-808.

PubMed PMID: 27901313

Diao Y, Cui L, Chen Y, Burbridge TJ, Han W, Wirth B, Sestan N, Crair MC, Zhang J.
Reciprocal Connections Between Cortex and Thalamus Contribute to Retinal Axon Targeting to Dorsal Lateral Geniculate Nucleus.
Cereb Cortex. 2017;10:1-15.

PubMed PMID: 28334242

Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC.
Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Pediatr Nephrol. 2017;32(7):1269-1273

PubMed PMID: 28364132

Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber LT, Beck BB, Liebau MC.
A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome.
Clin Nephrol. 2017;88(1):45-51.

PubMed PMID: 28502323

Erger F, Brüchle NO, Gembruch U, Zerres K.
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Arch Gynecol Obstet. 2017.

PubMed PMID: 28283827

Finkel RS, Sejersen T, Mercuri E;
ENMC SMA Workshop Study Group. 218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden,
The Netherlands, 19-21 February 2016.
Neuromuscul Disord. 2017;27(6):596-605.

PubMed PMID: 28392274

Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nat Genet. 2017;49(2):249-255.

PubMed PMID: 28067911

Hackl A, Ehren R, Kirschfink M, Zipfel PF, Beck BB, Weber LT, Habbig S.
Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS.
Pediatr Nephrol. 2017. 

PubMed PMID: 28220235

Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, Habbig S.
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Pediatr Nephrol. 2017. 

PubMed PMID: 28083701

Haverkampf S, Heider J, Weiß KT, Berneburg M, Karrer S, Schreml S, Haubner F, Ettl T, Schreml J, Hedtrich S, von Süßkind-Schwendi M, Dissemond J.
NHE1 expression at wound margins increases time-dependently during physiological healing.
Exp Dermatol. 2017;26(2):124-126.

PubMed PMID: 27249231

Hosseinibarkooie S, Schneider S, Wirth B.
Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.
Expert Rev Proteomics.2017;14(7):581-592.

PubMed PMID: 28635376

Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Sci Rep. 2017;3;7(1):1411.

PubMed PMID: 28469144

Khan AO, Lenzner S, Bolz HJ.
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
Ophthalmic Genet. 2016.

PubMed PMID: 27668459

Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit G, Wollnik B.
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Am J Med Genet A. 2017;173(1):264-267.

PubMed PMID: 27753196

Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I.
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin Genet. 2017.

PubMed PMID: 28369852

Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Clin Genet. 2016.

PubMed PMID: 27808407

O'Hern PJ, do Carmo G Gonçalves I, Brecht J, López Soto EJ, Simon J, Chapkis N, Lipscombe D, Kye MJ, Hart AC.
Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models.
Elife. 2017.

PubMed PMID: 28463115

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet. 2017.

PubMed PMID: 28191891

Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A. 2017.

PubMed PMID: 28574232

Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am J Hum Genet. 2017;100(2):297-315.

PubMed PMID: 28132687

Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar S, Pitt M, Bello O, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol. 2017 Apr;81(4):597-603

PubMed PMID: 28253535

Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur J Hum Genet. 2017.

PubMed PMID: 28635954

Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Pediatr Nephrol. 2017.

PubMed PMID: 28711958

Weiß KT, Fante M, Köhl G, Schreml J, Haubner F, Kreutz M, Haverkampf S, Berneburg M, Schreml S.
Proton-sensing G protein-coupled receptors as regulators of cell proliferation and migration during tumor growth and wound healing.
Exp Dermatol. 2017;26(2):127-132.

PubMed PMID: 27623507

2016

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet. 2017. 

PubMed PMID: 28191891

Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M.
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit.
Elife. 2016.

PubMed PMID: 27240166

Prantl L, Schreml J, Gehmert S, Klein S, Bai X, Zeitler K, Schreml S, Alt E, Gehmert S, Felthaus O.
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells.
Plast Reconstr Surg. 2016;137(4):1181-90.

PubMed PMID: 27018673

Sander D, Schröder J, Schönbuchner I, Schreml J, Karrer S, Berneburg M, Schreml S Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq.
Case Rep Dermatol. 2016;8(1):19-21.

PubMed PMID: 26933410

Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Clin Genet. 2016.

PubMed PMID: 27808407

Taylan C, Goebel H, Beck BB, Dötsch J, Nuesken KD, Hoppe B, Weber LT, Liebau MC. Quiz Page December 2016: Anuria on the Second Day Following Kidney Transplantation. Am J Kidney Dis. 2016;68(6):A18-A21.

PubMed PMID: 27884282

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MM, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
Genetic heterogeneity in Pakistani microcephaly families revisited.
Clin Genet. 2016

PubMed PMID: 28004384

Harr B, Karakoc E, Neme R, Teschke M, Pfeifle C, Pezer Ž, Babiker H, Linnenbrink M, Montero I, Scavetta R, Abai MR, Molins MP, Schlegel M, Ulrich RG, Altmüller J, Franitza M, Büntge A, Künzel S, Tautz D.
Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus.
Sci Data. 2016 Sep 13;3:160075

PubMed PMID: 27622383

Bolz HJ.
Hereditary Hearing Loss and Its Syndromes Third Edition.
Eur J Hum Genet. 2016;24(11):1650.

PubMed PMID: 27740631

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz HJ, Bergmann C, Rittinger O.
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Eur J Med Genet. 2016;59(8):386-91

PubMed PMID: 27377014

Khan AO, Lenzner S, Bolz HJ
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
Ophthalmic Genet. 2016 Sep 26:1-3

PubMed PMID: 27668459

Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Neurology. 2016 Oct 26. [Epub ahead of print]

PubMed PMID: 27784775

Delle Vedove A.*, Storbeck M.*, Heller R., Hölker I., Hebbar M., Shukla A., Magnusson O., Cirak S., Girisha K.M., O’Driscoll M., Loeys B. and Wirth B.
Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis and scoliosis.
Am J Hum Genet. 2016 Dec 1;99(6):1406-1408

PubMed PMID: 27843126

Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B.
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.
Am J Med Genet A. 2016 Dec;170(12):3282-3288

PubMed PMID: 27530281

G Golçalves ID, Rehorst WA, Kye MJ.
DYS-regulation of RNA mediated gene expression in motor neuron diseases.
CNS Neurol Disord Drug Targets. 2016;15:887-95.

PubMed PMID: 27577737

Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Am J Hum Genet. 2016 Sep 1;99(3):647-65.
PubMed PMID: 27499521

Highlight and FREE featured article AJHG

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Nat Genet. 2016;48(1):36-43.

PubMedID: 26595769

Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
Br J Ophthalmol. 2016;100(2):209-15.

PubMedID: 26061163

Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B.
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Am J Med Genet A. 2016;170(3):728-33.

PubMedID: 26640080

Moosa S, Wollnik B.
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Semin Cell Dev Biol. 2015;pii: S1084-9521(15)30018-5.

PubMedID: 26686047

Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B. Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin Genet. 2016;89:517-9.

PubMedID: 26467156

Nie M, Bal MS, Yang Z, Liu J, Rivera C, Wenzel A, Beck BB, Sakhaee K, Marciano DK, Wolf MT.
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.
J Am Soc Nephrol. 2016 Apr 1. pii: ASN.2015101100. [Epub ahead of print]

PubMedID: 27036738

Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.

PubMedID: 27120771

Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S; German Pediatric Nephrology Association (GPN).
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol. 2016;11(2):245-53.

PubMedID: 26668027

Bartram MP, Habbig S, Pahmeyer C, Höhne M, Weber LT, Thiele H, Altmüller J, Kottoor N, Wenzel A, Krueger M, Schermer B, Benzing T, Rinschen MM, Beck BB.
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Hum Mol Genet. 2016;25(6):1152-64.

PubMedID: 26740551

Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2015. 

PubMedID: 26489029

Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C,
Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E,
Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V,
Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo
P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C,
Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge B, Esser KA, Ferlini A.
Deep RNA profiling identified clock and molecular clock genes as pathophysiological
signatures in collagen VI myopathy.
J Cell Sci. 2016 Mar 4. pii: jcs.175927.[Epub ahead of print]

PubMedID: 26945058

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B,
Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A,
Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J,
Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P,
van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den
Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G,
Foulquier F, Marquardt T, Lefeber DJ.
CCDC115 Deficiency Causes a Disorder ofGolgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet. 2016 Feb4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010.

PubMedID: 26833332

Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S.
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic
paraplegia.
J Hum Genet. 2016 Feb 18. doi: 10.1038/jhg.2016.6.[Epub ahead of print]

PubMedID: 26888483

Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B.
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Cell Mol Life Sci. 2016 May;73(10):2089-104

PubMedID: 26573968

Günther S, Elert-Dobkowska E, Soehn AS, Hinreiner S, Yoon G, Heller R, Hellenbroich Y, Hübner CA, Ray PN, Hehr U, Bauer P, Sulek A, Beetz C
High Frequency of Pathogenic Rearrangements in SPG11, and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat. 2016 Apr 13. doi: 10.1002/humu.23000. [Epub ahead of print]

PubMedID: 27071356

Hoyer-Kuhn H, Franklin J, Allo G, Kron M, Netzer C, Eysel P, Hero B, Schoenau E, Semler O.
Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial.
J Musculoskelet Neuronal Interact. 2016;16(1):24-32.

PubMedID: 26944820

Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat. 2016;37(2):170-4.

PubMedID: 26593283

Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
Br J Ophthalmol. 2016;100(2):209-15.

PubMedID: 26061163

Khan AO, Bolz HJ.
Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
Ophthalmic Genet. 2016 Sep;37(3):301-6

PubMedID: 26885695

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
Khan AO, Tamimi M, Lenzner S, Bolz HJ.
Clin Genet. 2016

PubMedID: 26785811

Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Ophthalmic Genet. 2016 Feb 8:1-4. [Epub ahead of print]

PubMedID: 26854863

Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B.
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
Am J Med Genet A. 2016

PubMedID: 26792575

Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Nürnberg P.
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.
Biol Chem. 2016 Mar 25.

PubMedID: 27021259

Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M.
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Clin Genet. 2016 Mar 11. doi: 10.1111/cge.12775. [Epub ahead of print]

PubMedID: 26970110

Volmering E, Niehusmann P, Peeva V, Grote A, Zsurka G, Altmüller J, Nürnberg P, Becker AJ, Schoch S, Elger CE, Kunz WS.
Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.
Acta Neuropathol. 2016 Mar 18. [Epub ahead of print]

PubMedID: 269913140

Spier I, Kerick M, Drichel D, Horpaopan S, Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner, Thiele H, Nöthen MM, Hoffmann P, Timmermann B, Schweiger MR, Aretz S.
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Fam Cancer. 2016 Apr;15(2):281-8. doi: 10.1007/s10689-016-9870-z.

PubMedID: 26780541

Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P.
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Hum Genet. 2016 Feb;135(2):157-70. doi: 10.1007/s00439-015-1619-5. Epub 2015 Nov 30.

PubMedID: 26621532

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2016.

PubMedID: 27289364

Yis U, Baydan F, Karakaya M, Hız Kurul S, Cirak S.
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
Biomed Res Int. 2016.

PubMedID: 27123443

Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Nishimura G, Wollnik B.
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Am J Med Genet A. 2016.

PubMedID: 27354339

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Sang KL, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Donato ND, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2.
Hum Mutat. 2016.

PubMedID: 27302555

Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M.
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit.
Elife. 2016.

PubMedID: 27240166

Bello L, Morgenroth LP, Gordish-Dressman H, Hoffman EP, McDonald CM, Cirak S; CINRG investigators.
DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. Neurology. 2016.

PubMedID: 27343068

Karakaya M, Heller R, Kunde V, Zimmer KP, Chao CM, Nürnberg P, Cirak S.
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
Neuropediatrics. 2016.

PubMedID: 27214504

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group (with Cirak, S.).
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nat Commun. 2016.

PubMedID: 27173435

Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Ophthalmic Genet. 2016;8:1-4.

PubMedID: 26854863

2015

Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group.
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.
Neuromuscul Disord. 2015 Jul;25(7):593-602.

PubMedID:26045156

Giannopoulou EZ, Martin T, Wirth B, Yilmaz U, Gortner L, Meyer S.
Tongue fasciculations in an infant with spinal muscular atrophy type 1.
Clin Case Rep. 2015 Oct;3(10):832-4.

PubMedID: 26509018

Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur J Hum Genet. 2015 Feb;23(2):180-8.

PubMedID: 24801763

Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I.
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Neuromuscul Disord. 2015 Sep;25(9):713-8.

PubMedID: 26231298

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nat Commun. 2015 Sep 14;6:8111.

PubMedID: 26368830

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun. 2015 Jun 5;6:7074.

PubMedID: 26044572

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium.
Whole-genome sequence-based analysis of thyroid function.
Nat Commun. 2015 Mar 6;6:5681.

PubMedID: 25743335

UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.
The UK10K project identifies rare variants in health and disease.
Nature. 2015 Oct 1;526(7571):82-90.

PubMedID:26367797

Rahe J, Becker J, Fink GR, Kessler J, Kukolja J, Rahn A, Rosen JB, Szabados F, Wirth B, Kalbe E.
Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.
Front Aging Neurosci. 2015;7(187).

PubMedID: 26528177

Martinez-Carrera L, Wirth B.
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Front Neurosci. 2015;9(401).

PubMedID: 23664116

Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ.
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Br J Ophthalmol. 2015 Dec;99(12):1725-31

PubMedID: 26294103

Bifari IN, Elkhamary SM, Bolz HJ, Khan AO.
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
Br J Ophthalmol. 2015.

PubMedID: 26359340

Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest. 2015;125(9):3585-99.

PubMedID: 26280580

Steckelberg AL, Altmueller J, Dieterich C, Gehring NH.
CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes.
Nucleic Acids Res. 2015;43(9):4687-700.

PubMedID: 25870412

Cheng J, Sedlazek F, Altmüller J, Nolte AW.
Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus).
Proc Biol Sci. 2015; 282(1815).

PubMedID: 26354934

Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Am J Hum Genet. 2015;97(4):546-54.

PubMedID: 26387594

Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C Ludolph AC, Volk AE.
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiol Aging. 2015;36(11):3117.

PubMedID: 26362943

George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Pützer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmüller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castaños-Vélez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Köhler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansén S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nürnberg P, Reinhardt C, Perner S, Heukamp L, Büttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK.
Comprehensive genomic profiles of small cell lung cancer.
Nature. 2015;524(7563):47-53.

PubMedID: 26168399

Schramm A, Köster J, Assenov Y, Althoff K, Peifer M, Mahlow E, Odersky A, Beisser D, Ernst C, Henssen AG, Stephan H, Schröder C, Heukamp L, Engesser A, Kahlert Y, Theissen J, Hero B, Roels F, Altmüller J, Nürnberg P, Astrahantseff K, Gloeckner C, De Preter K, Plass C, Lee S, Lode HN, Henrich KO, Gartlgruber M, Speleman F, Schmezer P, Westermann F, Rahmann S, Fischer M, Eggert A, Schulte JH.
Mutational dynamics between primary and relapse neuroblastomas.
Nat Genet. 2015;47(8):872-7.

PubMedID: 26121086

Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S.
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Int J Cancer. 2015;137(2):320-31.

PubMedID: 25529843

Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G.
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Mol Cell Probes. 2015;29(5):330-4.

PubMedID: 26184463

Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I.
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Hum Genet. 2015l;134(7):691-704.

PubMedID: 25893793

Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Hum Mol Genet. 2015;24(13):3708-17.

PubMedID: 25839420

König K, Peifer M, Fassunke J, Ihle MA, Künstlinger H, Heydt C, Stamm K, Ueckeroth F, Vollbrecht C, Bos M, Gardizi M, Scheffler M, Nogova L, Leenders F, Albus K, Meder L, Becker K, Florin A, Rommerscheidt-Fuss U, Altmüller J, Kloth M, Nürnberg P, Henkel T, Bikár SE, Sos ML, Geese WJ, Strauss L, Ko YD, Gerigk U, Odenthal M, Zander T, Wolf J, Merkelbach-Bruse S, Buettner R, Heukamp LC.
Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients.
J Thorac Oncol. 2015;10(7):1049-57.

PubMedID: 26102443

Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC.
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Am J Med Genet A. 2015;167(11):2555-62.

PubMedID: 26129644

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015;77(6):972-86.

PubMedID: 25726841

Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet. 2015;24(9):2594-603.

PubMedID: 25616960

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res. 2015;25(4):609.

PubMedID: 25616960

Basmanav FB, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC.
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
J Invest Dermatol. 2015;135(2):615-8.

PubMedID: 25229252

Fernandez-Cuesta L, Sun R, Menon R, George J, Lorenz S, Meza-Zepeda LA, Peifer M, Plenker D, Heuckmann JM, Leenders F, Zander T, Dahmen I, Koker M, Schöttle J, Ullrich RT, Altmüller J, Becker C, Nürnberg P, Seidel H, Böhm D, Göke F, Ansén S, Russell PA, Wright GM, Wainer Z, Solomon B, Petersen I, Clement JH, Sänger J, Brustugun OT, Helland Å, Solberg S, Lund-Iversen M, Buettner R, Wolf J, Brambilla E, Vingron M, Perner S, Haas SA, Thomas RK.
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.
Genome Biol. 2015;16:7.

PubMedID: 25650807

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G.
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Hum Genet. 2015;134(1):45-51.

PubMedID: 25218063

Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L1, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra R, Davey MG, Bolz HJ TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Elife. 2015 Sep 19;4

PubMedID: 26386247

Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2015.

PubMedID: 26489029

Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B.
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Clin Genet. 2015.

PubMedID: 26467156

Khan AO, BergmannC, Neuhaus C, Bolz HJ.
A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations.
Ophthalmic Genet. 2015;36(1):79-84.

PubMedID: 25475713

Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet. 2015.:1;24(9):2594-603.

PubMedID: 25616960

Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis ;A, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (dFNA67).
Orphanet J of Rare Diseases. 2015 Feb 10;10:15

PubMedID: 25759012

Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, Boduroglu K.
A novel mutation in RNU4ATAC in a patient with microcephalicosteodysplastic primordial dwarfism type I.
Am J Med Genet A. 2015:167A(4):919-21.

PubMedID: 25735804

Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet. 2015:134(6):553-68.

PubMedID: 25724810

Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C.
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of OsteogenesisImperfecta.
Am J Hum Genet. 2015:5;96(3):432-9.

PubMedID: 25683121

Beleggia F, Li Y, Fan J, Elcioğlu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B.
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
Hum Mol Genet. 2015 Apr 15;24(8):2267-73

PubMedID: 25561690

Zheng X, Reho JJ, Wirth B, Fisher SA.
TRA2β controls Mypt1 exon 24 splicing in the developmental maturation of mouse mesenteric artery smooth muscle.
Am J Physiol Cell Physiol. 2015 Feb 15;308(4):C289-96.

PubMedID: 25428883

Khan AO, Bifari IN, Bolz HJ.
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.
Ophthalmology. 2015; S0161-6420(15)00183-9.

PubMedID: 25864795

Heller R, Bolz HJ.
The challenge of defining pathogenicity: the example of AHI1.
Genet Med. 2015;17(6):508.

PubMedID: 26035799

Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, CharbelIssa P.
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Invest Ophthalmol Vis Sci. 2015;56(4):2664-76.

PubMedID: 25766588

Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, CharbelIssa P.
Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
Ophthalmology. 2015;122(8):1555-62.

PubMedID:26077580

Kaczmarek A, Schneider S, Wirth B, Riessland M.
Investigational therapies for the treatment of spinal muscular atrophy.
Expert OpinInvestig Drugs. 2015;24(7):867-81.

PubMedID: 25911060

Wirth B, Barkats M, Martinat C, Sendtner M, Gillingwater TH.
Moving towards treatments for spinal muscular atrophy: hopes and limits.
Expert OpinEmerg Drugs. 2015;28:1-4.

PubMedID: 25920617

Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Hum Mol Genet. 2015;24(13):3708-17.

PubMedID: 25839420

Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, Bögershausen N, Uyguner ZO, Altunoglu U, Nürnberg, G, Nürnberg P, Rauch A, Li Y, Thiel CT, Wollnik B.
Mutations in CDK5RAP2 cause Seckel Syndrome.
Mol Gen Gen Med. 2015 Sep;3(5):467-80.

PubMedID: 26436113

Koenig JC, Rutsch F, Bockmeyer C, Baumgartner M, Beck BB, Kranz B, Konrad M.
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.
PediatrNephrol. 2015;30(7):1203-6.

PubMedID: 25894566

Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink Ten Cate FE.
Inhomogeneous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.
Echocardiography. 2015;32(8):1250-60.

PubMedID: 25441704

Beck B, Weber S.

Heutiger Stellenwert der Genetik in der Nephrologie. Beiträge und Perspektiven aus der pädiatrischen Nephrologie.

Hoyer-Kuhn H, Netzer C, Semler O.
Osteogenesis imperfecta: pathophysiology and treatment.
Wien MedWochenschr. 2015;165(13-14):278-84.

PubMedID: 26055811

Jobst-Schwan T, Pannes A, Schlingmann KP, Eckardt KU, Beck BB, Wiesener MS.
Discordant Clinical Course of Vitamin-D-Hydroylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Kidney Blood Press Res 2015;40:443-451

PubMedID: 26304832

Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ.
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Br J Ophthalmol. 2015:99(12):1725-31.

PubMedID: 26294103

Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li, Y, Katsanis N, Wollnik B.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest. 2015 Sep;125(9):3585-99

PubMed ID: 26280580

Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group*, Hildebrandt F.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015;26(6):1279-89.

PubMedID: 25349199

Khan AO1, Bolz HJ
Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.

Ophthalmic Genet. 2015;36(4):349-52
PubMed PMID: 24547909

Khan AO, Bergmann C, Eisenberger T, Bolz HJ.
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Br J Ophthalmol. 2015 Apr;99(4):488-92

PubMed PMID: 25342276

Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur J Hum Genet. 2015 Feb;23(2):180-8

PubMed PMID: 24801763

Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink Ten Cate FE.
Inhomogenous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.
Echocardiography. 2015 Aug;32(8):1250-60

PubMed PMID: 25441704

Anjum S, Azhar A, Tariq M, Baig SM, Bolz HJ, Qayyum M, Navi SMS, Raja GK.
GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families.
Pak J Soc. Sci. 2015 Aug;52(8):548-52

PubMedID: 25941349

2014

Arjona FJ, de Baaij, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG. CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
PloS Genet 2014 Apr 3;10(4):e1004267

PubMed PMID: 24699222

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Hum Mutat. 2014 Jan;35(1):76-85. 
PubMed PMID: 24123394

    Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ.
    Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
    Eur J Hum Genet. 2014 Feb;22(2):286-8
    PubMed PMID: 23838597

    Roberts JM, Ennajdaoui H, Edmondson C, Wirth B, Sanford JR, Chen B.
    Splicing factor TRA2B is required for neural progenitor survival.
    J Comp Neurol. 2014 Feb;522(2):372-92. doi: 10.1002/cne.23405.
    PubMed PMID: 23818142

    Lohkamp LN, Au Kv, Goebel HH, Kress W, Grieben U, Drossel K, Garbes L, Wirth B, Heppner FL, Stenzel W.
    A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene.
    J Child Neurol. 2014 Feb;29(2):254-9. 
    PubMed PMID: 24334346

    Synofzik M, Martinez-Carrera LA, Lindig T, Schöls L, Wirth B.
    Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
    J Neurol Neurosurg Psychiatry. 2014 May;85(5):590-2
    PubMed PMID: 24336790

    Komlósi K, Hadzsiev K, Garbes L, Martínez Carrera LA, Pál E, Sigurðsson JH, Magnusson O, Melegh B, Wirth B.
    Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
    Neuromuscul Disord. 2014 Feb;24(2):156-61. doi: 10.1016/j.nmd.2013.10.010. Epub 2013 Nov 11.
    PubMed PMID: 24300783

    Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B.
    Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice.
    Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77
    PubMed PMID: 24385516

    Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F.
    The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
    Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27.
    PubMed PMID: 23982343

    Kye MJ, Gonçalves ID.
    The role of miRNA in motor neuron disease.
    Front Cell Neurosci. 2014 Jan 30;8:15. eCollection 2014.
    PubMed PMID: 24523674

    Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ.
    The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
    Orphanet J Rare Dis. 2014 Jan 23;9(1):12. doi: 10.1186/1750-1172-9-12.
    PubMed PMID: 24456803

    Markus Storbeck, Kristina Hupperich, John Antonydas Gaspar, Kesavan Meganathan, Lilian Martínez Carrera, Radu Wirth, Agapios Sachinidis, Brunhilde Wirth
    Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C.
    Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
    Pediatr Nephrol. 2014 Aug;29(8):1451-6

    PubMed PMID:24504730

    Wishart TM, Mutsaers CA, Riessland M, Reimer MM, Hunter G, Hannam ML, Eaton SL, Fuller HR, Roche SL, Somers E, Morse R, Young PJ, Lamont DJ, Hammerschmidt M, Joshi A, Hohenstein P, Morris GE, Parson SH, Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH.
    Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
    J Clin Invest. 2014 Apr 1;124(4):1821-34. doi: 10.1172/JCI71318. Epub 2014 Mar 3.

    PubMed PMID: 24590288

    Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.
    Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin.
    Kidney Int. 2014 Sep;86(3):589-99

    PubMed PMID: 24670410

    Khan AO, Bolz HJ, Bergmann C.
    Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
    J AAPOS. 2014;18(2):203-5.

    PubMedPMID: 24698627

    Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.
    Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
    Br J Ophthalmol. 2014 Dec;98(12):1724-8

    PubMed PMID: 24997176

    Khan AO, Nagl S, Bergmann C, Bolz HJ.
    Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").
    J Pediatr Ophthalmol Strabismus. 2014 Jul 16;51 Online:e51-4

    PubMed PMID: 25032695

    Khan AO, Bolz HJ, Bergmann C.
    Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.
    J AAPOS. 2014;18(2):134-9.

    PubMed PMID: 24698609

    Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ.
    Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
    Hum Mutat. 2014;35(5):565-70.

    PubMed PMID: 24616153

    Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
    Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy.
    Hum Mutat. 2014;35(10):1153-62.

    PubMed PMID: 25044745

    Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G.
    Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
    Kidney Int. 2014 Dec;86(6):1197-204

    PubMed PMID: 24988064

    Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG.
    CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
    PLoS Genet. 2014

    PubMed PMID: 24699222

    Kye MJ, Niederst ED, Wertz MH, Gonçalves ID, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M.
    SMN regulates axonal local translation via miR-183/mTOR pathway.
    Hum Mol Genet. 2014 Dec 1;23(23):6318-31

    PubMed PMID: 25055867

    Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O.
    Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI.
    Orphanet J Rare Dis. 2014;26;9(1):145

    PubMed PMID: 25257953

    Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C.
    A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
    J Bone Miner Res. 2014;29(6):1387-91.

    PubMed PMID: 24293101

    Linder B, Hirmer A, Gal A, Rüther K, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
    Identification of a PRPF4 loss-of-function  variant that abrogates U4/U6.U5 Tri-snRNP integration and is associated with retinitis pigmentosa.
    PLoS One. 2014 Nov 10; 9(11).

    PubMed PMID: 25383878

    Powis RA, Mutsaers CA, Wishart TM, Hunter G, Wirth B, Gillingwater TH.
    Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target.
    Neuropathol Appl Neurobiol. 2014 Dec;40(7):873-87. doi: 10.1111/nan.12168.

    PubMed PMID: 25041530

    Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.
    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
    Nat Genet. 2014 Dec;46(12):1283-92. doi: 10.1038/ng.3122. Epub 2014 Oct 26.

    PubMed PMID: 25344692

    Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J1, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.
    Mutations in CKAPL2, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome.
    Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.

    PubMed PMID: 25439729

    Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
    CHARGE and Kabuki syndromes: a phenotypic and molecular link.
    Hum Mol Genet. 2014 Aug 15;23(16):4396-405.

     

    Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators. (Wollnik)
    Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
    Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75.

     

    Krones T, Koerner U, Schmitz D, et al. (Netzer)
    Is the prohibition of prenatal diagnosis of late-onset diseases in the German Genetic Diagnosis Act medically, legally and ethically justified?
    Eth. Med. 2014:26(1):33-46.

     

    Roberts JM, Ennajdaoui H, Edmondson C, Wirth B, Sanford J, Chen B.
    Splicing factor TRA2B is required for neural progenitor survival.
    J Comp Neurol. 2014 Feb 1;522(2):372-92. doi: 10.1002/cne.23405.
    PubMed PMID: 23818142

     

    Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ.
    Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
    Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10.
    PubMed PMID: 23838597

     

    Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.

    Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
    PubMed PMID: 24123394

     

    2013

    Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM.
    Extended mutation spectrum of Usher syndrome in Finland.
    Acta Ophthalmol. 2013 Jun;91(4):325-34. doi: 10.1111/j.1755-3768.2012.02397.x. Epub 2012 Jun 8.
    PubMed PMID: 22681893

    Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B.
    VPA response in SMA is suppressed by the fatty acid translocase CD36.
    Hum Mol Genet. 2013 Jan 15;22(2):398-407. doi: 10.1093/hmg/dds437. Epub 2012 Oct 16.
    PubMed PMID: 23077215

    Schreml J, Riessland M, Paterno M, Garbes L, Roßbach K, Ackermann B, Krämer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B.
    Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
    Eur J Hum Genet. 2013 Jun;21(6):643-52. doi: 10.1038/ejhg.2012.222. Epub 2012 Oct 17.
    PubMed PMID: 23073311

    Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B.
    Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
    Hum Mol Genet. 2013 Apr 1;22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20.
    PubMed PMID: 23263861

    Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.
    Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
    Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11.
    PubMed PMID: 22781098

    Bögershausen N, Bruford E, Wollnik B.
    Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
    Clin Genet. 2013 Mar;83(3):212-4. doi: 10.1111/cge.12050. Epub 2012 Nov 27.
    PubMed PMID: 23130995

    Bögershausen N, Wollnik B.
    Unmasking Kabuki syndrome.
    Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26.
    PubMed PMID: 23131014

    Beck BB, Hoyer-Kuhn H, Göbel H, Habbig S, Hoppe B.
    Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.
    Expert Opin Investig Drugs. 2013 Jan;22(1):117-29. doi: 10.1517/13543784.2013.741587. Epub 2012 Nov 21.
    PubMed PMID: 23167815

    Bartsch DK, Bohlander SK, Dralle H, Fendrich V, Grimm O, Höppner W, Langer P, Netzer C, Lopez CL, Machens A.
    Multiple endokrine Neoplasien
    Rothmund M: Endokrine Chirurgie, 3. Auflage 2013; 629 ff.
    Springer

    Krones T, Körner U, Schmitz D, Henn W, Wewetzer C, Kreß H, Netzer C, Thorn P, Bockenheimer-Lucius G.
    Das Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im deutschen Gendiagnostikgesetz – eine Diskussion medizinischer und rechtlicher Aspekte und deren Implikation für die medizinische Diskussion
    Ethik Med. 2013
    Springer

    Dimitriadi M, Kye MJ, Kalloo G, Yersak JM, Sahin M, Hart AC.
    The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models.
    J Neurosci. 2013 Apr 10;33(15):6557-62. doi: 10.1523/JNEUROSCI.1536-12.2013.
    PubMed PMID: 23575853

    Garbes L, Riessland M, Wirth B.
    Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
    Curr Pharm Des. 2013;19(28):5093-104.
    PubMed PMID: 23448465

    Wirth B, Garbes L, Riessland M.
    How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.
    Curr Opin Genet Dev. 2013 Jun;23(3):330-8. doi: 10.1016/j.gde.2013.03.003. Epub 2013 Apr 17.
    PubMed PMID: 23602330

    Somers E, Riessland M, Schreml J, Wirth B, Gillingwater TH, Parson SH.
    Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy.
    Neurosci Lett. 2013 Jun 7;544:100-4. doi: 10.1016/j.neulet.2013.03.052. Epub 2013 Apr 10.
    PubMed PMID: 23583590

    Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJM, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.
    Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy.
    Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.
    PubMed PMID: 23664116

    Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW.
    A De Novo GLI3 Mutation in a Patient With Acrocallosal Syndrome.
    Am J Med Genet A. 2013 Jun;161(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30.
    PubMed PMID: 23633388

    Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS.
    The RPGRIP1-related retinal phenotype in children.
    Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16.
    PubMed PMID: 23505306

    Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C.
    Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
    Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14.
    PubMed PMID: 23418306

    Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M; UK10K, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.
    Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease.
    Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.
    PubMed PMID: 23418020

    Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ; Project Cure SMA Investigators Network. Collaborators: Swoboda KJ, Acsadi G, Crawford T, D'Anjou G, Elsheik B, Kissel JT, Kishnani P, Krosschell KJ, LaSalle B, Reyna SP, Schroth MK, Scott C, Simard LR, Smith EC, Wirth B, von Kleist-Retzow JC.
    Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
    Pediatr Phys Ther. 2013 Summer;25(2):140-8; discussion 149. doi: 10.1097/PEP.0b013e31828a205f.
    PubMed PMID: 23542189

    van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G.
    PLS3 mutations in X-linked osteoporosis with fractures.
    N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.
    PubMed PMID: 24088043

    Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS.
    ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
    Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23.
    PubMed PMID: 23793029

    Galvez-Ruiz A, Neuhaus C, Bergmann C, Bolz H.
    First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations.
    J Neuroophthalmol. 2013 Dec;33(4):349-53. doi: 10.1097/WNO.0b013e31829ffb9a.
    PubMed PMID: 24051421

    Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B.
    Mutations in WNT1 cause different forms of bone fragility.
    Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14.
    PubMed PMID: 23499309

    Reintjes N, Li Y, Becker A, Rohmann E, Schmutzler R, Wollnik B.
    Activating somatic FGFR2 mutations in breast cancer.
    PLoS One. 2013;8(3):e60264. doi: 10.1371/journal.pone.0060264. Epub 2013 Mar 20.
    PubMed PMID: 23527311

    Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D.
    Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
    Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.
    PubMed PMID: 23568615

    Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.
    Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
    Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.
    PubMed PMID: 23830518

    Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PO, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkynay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.
    A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
    Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.
    PubMed PMID: 23906836

    Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA.
    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
    Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4.
    PubMed PMID: 23918663

    Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.
    Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
    Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.
    PubMed PMID: 24035636

    Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D.
    A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
    J Med Genet. 2013 Dec;50(12):838-47. doi: 10.1136/jmedgenet-2013-101918. Epub 2013 Oct 3.
    PubMed PMID: 24092917

    Lagies R, Beck BB, Hoppe B, Sreeram N, Ten Cate FE.
    Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1.
    Circ Heart Fail. 2013 Jul;6(4):e45-7. doi: 10.1161/CIRCHEARTFAILURE.113.000432.
    PubMed PMID: 23861508

    Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.
    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
    J Clin Invest. 2013 Aug 1;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8.
    PubMed PMID: 23867502

    Jacob DE, Grohe B, Geßner M, Beck BB, Hoppe B.
    Kidney stones in primary hyperoxaluria: new lessons learnt.
    PLoS One. 2013 Aug 5;8(8):e70617. doi: 10.1371/journal.pone.0070617. Print 2013.
    PubMed PMID: 23940605

    Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB.
    A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.
    PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414.
    PubMed PMID: 24124559

    Samantha Schrier Vergano MD, Gijs Santen MD PhD, Dagmar Wieczorek MD, Bernd Wollnik MD, Naomichi Matsumoto MD PhD, and Matthew A Deardorff MD PhD.
    GeneReviews: Coffin-Siris Syndrome
    GeneReviewsTM [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2013 Apr 04 [updated 2013 Jul 11].
    PubMed PMID: 23556151
    Review: Full Text

    Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.
    The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
    Am J Med Genet A. 2013;161(9): 2158-66.

    PubMed PMID: 23913520

    Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RC, Wollnik B.
    Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
    Am J Med Genet A. 2013;161A(6): 1475-9.

    PubMed PMID: 23636941

    Volk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D.
    A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation
    Audiol Neurootol. 2013;18(3): 192-199

    PubMed PMID: 23635807

    Schnurbein G, Hauke J, Wappenschmidt B, Weber-Lassalle N, Engert S, Hellebrand H, Garbes L, Becker A, Neidhardt G, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
    Breast Cancer Res. 2013;15(6): R120.

    PubMed PMID: 24359560

    Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M.
    Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.
    Eur J Med Genet. 2013;56(8): 458-62.

    PubMed PMID: 23811035

    Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar M, Onay MP, Yigit G, Özkinay F, Wollnik B.
    A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
    Hum Genet. 2013;132(11): 1311-20.

    PubMed PMID: 23851939

    Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar M, Yigit G, Ozkinay F, Wollnik B.
    A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
    Hum Genet. 2013;132(11): 1321-1321.

    PubMed PMID: 23851939

    Beck BB, Wollnik B, Komhoff M.
    Ion channelopathies of the kidney and adrenal gland.

    Med Genet. 2013;25(4): 480-485.

    Rachwalski M, Wollnik B, Kress W.
    Clinical course and genetics of syndromic and non-syndromic craniosynostosis.

    Med Genet. 2013;25(3): 373-385.

    Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.
    Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
    PLoS ONE. 2013;8(11): e78496.

    PubMed PMID: 24265693

    Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcioğlu N, Rachwalski M, Kamaci S, Tunçbilek G, Akin B, Grötzinger J, Konas E, Mavili E, Müller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B.
    Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.
    Mol Genet Genomic Med. 2013;1(4):223-37

    PubMed PMID: 24498618

    Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM.
    Extended mutation spectrum of Usher syndrome in Finland.
    Acta Ophthalmol. 2013 Jun;91(4):325-34. doi: 10.1111/j.1755-3768.2012.02397.x. Epub 2012 Jun 8.
    PubMed PMID: 22681893
    Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.
    Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
    Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11.
    PubMed PMID: 22781098
    Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B.
    VPA response in SMA is suppressed by the fatty acid translocase CD36.
    Hum Mol Genet. 2013 Jan 15;22(2):398-407. doi: 10.1093/hmg/dds437. Epub 2012 Oct 16.
    PubMed PMID: 23077215
    Schreml J, Riessland M, Paterno M, Garbes L, Roßbach K, Ackermann B, Krämer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B.
    Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
    Eur J Hum Genet. 2013 Jun;21(6):643-52. doi: 10.1038/ejhg.2012.222. Epub 2012 Oct 17.
    PubMed PMID: 23073311

    2012

    Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF.
    Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
    Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
    PubMed PMID: 22009552

    Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, Höcker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dötsch J, Müller-Wiefel DE, Hoyer P; and Members of the Gesellschaft für Pädiatrische Nephrologie (GPN), Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Müller GA, Weber M.
    Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
    Kidney Int. 2012 Mar;81(5):494-501. doi: 10.1038/ki.2011.407. Epub 2011 Dec 14.
    PubMed PMID: 22166847

    Rathnamalala NK, Lanerolle RD, Hoppe B, Beck B.
    Primary hyperoxaluria presenting with early renal allograft dysfunction.
    Nephrology (Carlton). 2012 May;17(4):431. doi: 10.1111/j.1440-1797.2011.01534.x.
    PubMed PMID: 22509767

    Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B.
    Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?
    Nephrol Dial Transplant. 2012 Jul;27(7):2984-9. Epub 2012 Jan 28.
    PubMed PMID: 22287658

    Hueppelshaeuser R, von Unruh GE, Habbig S, Beck BB, Buderus S, Hesse A, Hoppe B.
    Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn's disease.
    Pediatr Nephrol. 2012 Jul;27(7):1103-9. Epub 2012 Feb 25.
    PubMed PMID: 22366809

    Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B.
    A large duplication involving the IHH locus mimics acrocallosal syndrome.
    Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11.
    PubMed PMID: 22234151

    Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S.
    Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
    Blood Coagul Fibrinolysis. 2012 Jun;23(4):335-7.
    PubMed PMID: 22343686

    Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmüller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schönau E, Wirth R, Hammerschmidt M, Nürnberg P, Wollnik B, Carney TJ.
    Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
    Am J Hum Genet. 2012 Apr 6;90(4):661-74.
    PubMed PMID: 22482805

    Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C.
    A Mutation in the 5'-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus.
    Am J Hum Genet. 2012 Aug 10;91(2):349-57. Epub 2012 Aug 2.
    PubMed PMID: 22863195

    Samia Temtamy, Mona Aglan, A. Kemal Topaloglu, Bernd Wollnik, Khalda Amr, Tarek H El-Badry, Gamal A Hosny, Nermine Salah Eldin, Mohammad Shboul, Mustafa Herdem, Junxian Ong, Bruno Reversade, Jingh Tian.
    Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations.
    Middle East Journal of Medical Genetics: July 2012 - Volume 1 - Issue 2 - p 64–70 doi: 10.1097/01.MXE.0000414918.78299.94.
    [Middle East Journal of Medical Genetics]

    Semler O, Netzer C, Hoyer-Kuhn H, Becker J, Eysel P, Schoenau E.
    First use of the RANKL antibody denosumab in Osteogenesis Imperfecta Type VI.
    J Musculoskelet Neuronal Interact. 2012 Sep;12(3):183-8.
    PubMed PMID: 22947550

    Netzer C, Schmitz D, Henn W.
    To know or not to know the genomic sequence of a fetus.
    Nat Rev Genet. 2012 Oct;13(10):676-7. doi: 10.1038/nrg3333. Epub 2012 Sep 4.
    PubMed PMID: 22945393

    Busch J, Frank V, Bachmann N, Otsuka A, Oji V, Metze D, Shah K, Danda S, Watzer B, Traupe H, Bolz HJ, Kabashima K, Bergmann C.
    Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing.
    J Invest Dermatol. 2012 Oct;132(10):2473-6. doi: 10.1038/jid.2012.146. Epub 2012 Jun 14.
    PubMed PMID: 22696055

    Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.
    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
    Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59.
    PubMed PMID: 22938382

    Hinkes B, Hilgers KF, Bolz HJ, Goppelt-Struebe M, Amann K, Nagl S, Bergmann C, Rascher W, Eckardt KU, Jacobi J.
    A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
    BMC Nephrol. 2012 May 14;13:27.
    PubMed PMID: 22583611

    Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S.
    Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
    Blood Coagul Fibrinolysis. 2012 Jun;23(4):335-7.
    PubMed PMID: 22343686

    Fu K, Mende Y, Bhetwal BP, Baker S, Perrino BA, Wirth B, Fisher SA.
    Tra2β protein is required for tissue-specific splicing of a smooth muscle myosin phosphatase targeting subunit alternative exon.
    J Biol Chem. 2012 May 11;287(20):16575-85. Epub 2012 Mar 21.
    PubMed PMID: 22437831

    von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.
    A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
    Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18.
    PubMed PMID: 23084290

    Wollnik B, Kornak U.
    Progeroide Erkrankungen und ihre Mechanismen.
    Medgen. 2012; 24: 253-6.

    Yigit G, Wollnik B.
    Molekulare Mechanismen des Seckel- Syndroms
    Medgen. 2012; 24: 284-8.
    Semler O, Hoyer-Kuhn H, Netzer C.
    Osteogenesis imperfecta
    Medgen. 2012; 24:297-311
    Semler O, Netzer C, Hoyer-Kuhn H, Schönau E.
    Osteogenesis Imperfekta. Genetische Grundlagen und medikamentöse Behandlungsmöglichkeiten.
    Päd Prax. 2012;79:81-90

    Cogulu O, Durmaz B, Wollnik B, Durmaz A, Darcan S, Ozkinay F.
    A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies.
    Genet Couns. 2012;23(2):281-7.
    PubMed PMID: 22876588

    2011

    Linder B, Dill H, Hirmer A, Brocher J, Lee GP, Mathavan S, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
    Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.
    Hum Mol Genet. 2011 Jan 15;20(2):368-77. Epub 2010 Nov 3.
    PubMed PMID: 21051334

    Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B.
    CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
    Nat Genet. 2011 Jan;43(1):23-6. Epub 2010 Dec 5.
    PubMed PMID: 21131973

    Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
    A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
    Hum Genet. 2011 Jan;129(1):45-50. Epub 2010 Oct 22.
    PubMed PMID: 20967465

    Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ.
    Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
    Nat Neurosci. 2011 Jan;14(1):77-84. Epub 2010 Dec 5.
    PubMed PMID: 21131953

    Savaskan NE, Seufert S, Hauke J, Tränkle C, Eyüpoglu IY, Hahnen E
    Dissection of mitogenic and neurodegenerative actions of cystine and glutamate in malignant gliomas
    Oncogene. 2011 Jan 6;30(1):43-53. Epub 2010 Aug 30.
    PubMed PMID: 20802520

    Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C
    Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
    Am J Hum Genet. 2011 Feb 11;88(2):127-37. Epub 2011 Jan 20.
    PubMed PMID: 21255762

    Frenzel LP, Claus R, Plume N, Schwamb J, Konermann C, Pallasch CP, Claasen J, Brinker R, Wollnik B, Plass C, Wendtner CM
    Sustained NF-kappa B activity in chronic lymphocytic leukemia (CLL) is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus
    Int J Cancer. 2011 May 15;128(10):2495-500. doi: 10.1002/ijc.25579.
    PubMed PMID: 20669229

    Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO.
    A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
    Am J Med Genet A. 2011 Jan;155A(1):180-5.
    PubMed PMID: 21204229

    Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.
    Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
    Am J Hum Genet. 2011, 88:362-71.
    PubMed PMID: 21353196

    Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
    A mutation screen in patients with Kabuki syndrome.
    Hum Genet. 2011 Dec;130(6):715-24. Epub 2011 May 24.
    PubMed PMID: 21607748

    Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
    Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
    Am J Hum Genet. 2011 Mar 11;88(3):382-90.
    PubMed PMID: 21397065

    Sankaran VG, Menne J, Heller R.
    Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin.
    Blood. 2011 Apr 21;117(16):4396-7
    PubMed PMID: 21511965

    Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE.
    Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
    Am J Med Genet A. 2011 Apr;155(4):706-16
    PubMed PMID: 21438134

    Hoffmann K, Heller R.
    Uniparental disomies 7 and 14.
    Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100
    PubMed PMID: 21396576

    Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ.
    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
    J Clin Invest. 2011;121(7):2662-7.
    PubMed PMID: 21633164

    Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O.
    Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
    Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16
    PubMed PMID: 21407258

    Mehler K, Beck BB, Kaul I, Rahimi G, Hoppe B, Kribs A.
    Respiratory and general outcome in neonates with renal oligohydramnios--a single-centre experience.
    Nephrol Dial Transplant. 2011 Nov;26(11):3514-22. Epub 2011 Mar 9
    PubMed PMID: 21389070

    Hoppe B, Dittlich K, Fehrenbach H, Plum G, Beck BB.
    Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis.
    Am J Kidney Dis. 2011 Sep;58(3):453-5. Epub 2011 Jun 25.
    PubMed PMID: 21705122

    Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT.
    Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
    Am J Kidney Dis. 2011;58(5):821-5.
    PubMed PMID: 21903317

    Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH.
    Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
    Hum Mol Genet. 2011;20(22):4334-44.
    PubMed PMID: 21840928

    Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM.
    Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
    Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12.
    PubMed PMID: 21542062

    Bolz HJ, Roux AF.
    Clinical utility gene card for: Usher syndrome.
    Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.15. Epub 2011 Mar 9.
    PubMed PMID: 21697857

    Ugolino J, Fang S, Kubisch C, Monteiro MJ.
    Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
    Hum Mol Genet. 2011 Sep 15;20(18):3565-77. Epub 2011 Jun 10.
    PubMed PMID: 21665991

    Volk AE, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant AW, Ivo R, Eysel P, Kubisch C, Neugebauer A.
    Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
    Mol Vis. 2011;17:1978-86. Epub 2011 Jul 20.
    PubMed PMID: 21850172

    Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP.
    Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
    Am J Hum Genet. 2011;89(5):595-606.
    PubMed PMID: 22019272

    Hofmann K, Becker J, Heller R, Boute O, Andrieux J, Hoyer J, Ekici AB, Reis A,  Rauch A.
    7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
    Eur J Med Genet. 2011 Sep-Oct;54(5):e495-500. doi: 10.1016/j.ejmg.2011.06.002. Epub 2011 Jun 21.
    PubMed PMID: 21722758

    Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes MKubisch C, Ahmad J, Bolz HJ.
    Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
    Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16.
    PubMed PMID: 21850168

    Habbig S, Beck BB, Hoppe B.
    Nephrocalcinosis and urolithiasis in children.
    Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28.
    PubMed PMID: 21956187

    Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P.
    The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
    Hum Mol Genet. 2011 Dec 15;20(24):4865-78. Epub 2011 Sep 14.
    PubMed PMID: 21920940

    Grellscheid S, Dalgliesh C, Storbeck M, Best A, Liu Y, Jakubik M, Mende Y, Ehrmann I, Curk T, Rossbach K, Bourgeois CF, Stévenin J, Grellscheid D, Jackson MS, Wirth B, Elliott DJ.
    Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development.
    PLoS Genet. 2011 Dec;7(12):e1002390. doi: 10.1371/journal.pgen.1002390. Epub 2011 Dec 15.
    PubMed PMID: 22194695

    Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.
    TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
    Am J Hum Genet. 2011;89(6):713-30.
    PubMed PMID: 22152675

    Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A.
    Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.
    Am J Med Genet A. 2011 Dec;155A(12):3075-81. doi: 10.1002/ajmg.a.34300. Epub 2011 Nov 3.
    PubMed PMID: 22052712

    Schorn R, Beck BB, Cohen CD, Wütherich RP, Mohebbi N.
    Rezidivierende Urolithiasis mit progredienter Niereninsuffiziens.
    Der Nephrologe. 2011/3; 6:270-3.
    Abstract SpringerMedizin

     

    2010

    Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B
    A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
    Hum Mutat. 2010;31(1):81-9
    PubMed PMID: 19847792

    Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B
    A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
    Mol Syndromol. 2010 Feb;1(1):27-34. Epub 2010 Jan 15.
    PubMed PMID: 20648243

    Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blümcke I, Hahnen E, Wirth B
    SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
    Hum Mol Genet. 2010 Apr 15;19(8):1492-506. Epub 2010 Jan 22
    PubMed PMID: 20097677

    Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, Robert F, Giraudon-Paoli M, Riessland M, Mattei MG, Andriambeloson E, Wirth B, Sendtner M, Gallego J, Pruss RM, Bordet T
    Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
    Neurobiol Dis. 2010;38(1):125-135
    PubMed PMID: 20085811

    Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT
    Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary Uromodulin expression
    Hum Mol Genet. 2010 May 15;19(10):1985-97. Epub 2010 Feb 18
    PubMed PMID: 20172860

    Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
    Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
    Am J Hum Genet. 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18.
    PubMed PMID: 20170898

    Mende Y, Jakubik M, Riessland M, Schoenen F, Roßbach K, Kleinridders A, Köhler C, Buch T, Wirth B
    Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing
    Hum Mol Genet. 2010 Jun 1;19(11):2154-67. Epub 2010 Feb 27
    PubMed PMID: 20190275

    Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A
    Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
    Hum Mol Genet. 2010 May 15;19(10):2005-14. Epub 2010 Feb 23
    PubMed PMID: 20179078

    Striessnig J, Bolz HJ, Koschak A
    Channelopathies in Ca(v)1.1, Ca (v)1.3, and Ca (v)1.4 voltage-gated L-type Ca (2+) channels
    Pflugers Arch. 2010 Jul;460(2):361-74. Epub 2010 Mar 7
    PubMed PMID: 20213496

    Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
    Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin
    Mol Vis. 2010 Mar 23;16:495-500
    PubMed PMID: 20352026

    Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ,       Friderici KH
    A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
    Clin Genet. 2010 Sep;78(3):267-74. Epub 2010 Mar 1.
    PubMed PMID: 20236118

    Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A.
    Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
    Mov Disord. 2010 Sep 15;25(12):1929-37
    PubMed PMID: 20683840

    Coras R, Siebzehnrubl FA, Pauli E, Huttner HB, Njunting M, Kobow K, Villmann C, Hahnen E, Neuhuber W, Weigel D, Buchfelder M, Stefan H, Beck H, Steindler DA, Blümcke I
    Low proliferation and differentiation capacities of adult hippocampal stem cells correlate with memory dysfunction in humans
    Brain. 2010 Nov;133(11):3359-72. Epub 2010 Aug 18
    PubMed PMID: 20719879

    Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A; International Headache Genetics Consortium
    Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
    Nat Genet. 2010 Oct;42(10):869-73. Epub 2010 Aug 29
    PubMed PMID: 20802479

    Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C
    Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
    Am J Med Genet A. 2010 Aug;152A(8):2090-3
    PubMed PMID: 20635400

    Simon T, Feldkötter M, Buiting K, Ortmann M, Bolz H, Körber F
    Slow progression of a small Wilms' tumor
    Klin Padiatr. 2010 May;222(3):190-1. Epub 2010 May 31.
    PubMed PMID: 20514626

    Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ
    PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
    J Clin Invest. 2010 Jun 1;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.
    PubMed PMID: 20440071

    Volk AE, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A
    Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders
    Graefes Arch Clin Exp Ophthalmol. 2010 Sep;248(9):1351-7. Epub 2010 Jun 10.
    PubMed PMID: 20535495

    Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
    Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome
    PLoS One. 2010 Apr 29;5(4):e10418.
    PubMed PMID: 20454682

    Li Y, Pabst S, Kubisch C, Grohé C, Wollnik B
    First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis
    Thorax. 2010 Oct;65(10):939-40. Epub 2010 Aug 30
    PubMed PMID: 20805159

    Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B
    LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
    Am J Hum Genet. 2010 May 14;86(5):696-706. Epub 2010 Apr 8.
    PubMed PMID: 20381006

    Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA
    Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
    Am J Hum Genet. 2010 May 14;86(5):789-96. Epub 2010 May 6.
    PubMed PMID: 20451171

    Saha B, Lessel D, Hisama FM, Leistritz DF, Friedrich K, Martin GM, Kubisch C, Oshima J
    A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features
    Mol Syndromol. 2010 Sep;1(3):127-132. Epub 2010 Sep 14
    PubMed PMID: 21031082

    Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J
    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
    Hum Genet. 2010 Jul;128(1):103-11. Epub 2010 May 5.
    PubMed PMID: 20443122

    Wollnik B
    A common mechanism for microcephaly
    Nat Genet. 2010 Nov;42(11):923-4
    PubMed PMID: 20980985

    Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
    Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome
    PLoS One. 2010 Apr 29;5(4):e10418
    PubMed PMID: 20454682

    Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B.
    Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
    Am J Hum Genet. 2010;87(6):757-67.
    PubMed PMID: 21129728

    Schild AM, Fricke J, Herkenrath P, Bolz H, Neugebauer A.
    Neuro-ophthalmological and ophthalmological findings in Joubert syndrome.
    Klin Monbl Augenheilkd. 2010 Oct;227(10):786-91.
    PubMed PMID: 20963681

     

    2009

    Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E
    A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
    Arch Dermatol Res. 2009;301(5):391-3
    PubMed PMID: 18820939

    Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E
    Survival Motor Neuron Gene 2 Silencing by DNA Methylation Correlates with Spinal Muscular Atrophy Disease Severity and can be Bypassed by Histone Deacetylase Inhibition
    Hum Mol Genet. 2009;18(2):304-17
    PubMed PMID: 18971205

    Kobow K, Jeske I, Hildebrandt M, Hauke J, Hahnen E, Buslei R, Buchfelder M, Weigel D, Stefan H, Kasper B, Pauli E, Blümcke I
    Increased Reelin promoter methylation in temporal lobe epilepsy
    J Neuropathol Exp Neurol. 2009;68(4):356-64
    PubMed PMID: 19287316

    Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ
    An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
    Eur J Hum Genet. 2009;17(1):80-4
    PubMed PMID: 18665195

    Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C
    New genetic evidence for involvement of the dopamine system in migraine with aura
    Hum Genet. 2009 Apr;125(3):265-79
    PubMed PMID: 19152006

    Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Todt U, Göbel H, Kaprio J, Kubisch C, Färkkilä M, Palotie A, Wessman M, Kallela M
    Genetic association study of Endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura
    Cephalalgia. 2009;29:1224-31
    PubMed PMID: 19558538

    Kuhn J, Brümmendorf TH, Brassat U, Lehnhardt FG, Chung BD, Harnier S, Bewermeyer H, Harzheim A, Assheuer J, Netzer C
    Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations
    Eur Neurol. 2009;61(3):154-8
    PubMed PMID: 19092252

    Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C
    A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats
    Hum Mutat. 2009;30(4):641-8
    PubMed PMID: 19177549

    Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP
    Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene
    Br J Ophthalmol. 2009;93(7):920-5
    PubMed PMID: 19403518

    Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ
    GPR98 mutations cause Usher syndrome type 2 in males
    J Med Genet. 2009;46(4):277-80
    PubMed PMID: 19357117

    Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ
    A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
    Eur J Hum Genet. 2009;17(8):1076-12
    PubMed PMID: 19190672

    Li Y, Pabst S, Lokhande S, Grohé C, Wollnik B
    Extended genetic analysis of BTNL2 in sarcoidosis
    Tissue Antigens. 2009;73(1):59-61
    PubMed PMID: 19140834

    Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F
    Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings
    J Neurol. 2009;256(3):416-9
    PubMed PMID: 19277761

    Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A
    Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease
    Mov Disord. 2009;24(3):429-33
    PubMed PMID: 19097176

    Schmidt K, Wolfe DM, Stiller B, Pearce DA
    Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2
    Biochem Biophys Res Commun. 2009;383(2):198-202
    PubMed PMID: 19345671

    Netzer C, Klein C, Kohlhase J, Kubisch C
    New challenges for informed consent through whole genome array testing
    J Med Genet. 2009;46(7):495-6
    PubMed PMID: 19571117

    Miró X, Zhou X, Boretius S, Michaelis T, Kubisch C, Alvarez-Bolado G, Gruss P
    Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube
    Dis Model Mech. 2009;2(7-8):412-8
    PubMed PMID: 19535498

    Kubisch C
    Chromosomal microdeletions: minor imbalances with major consequences
    Neurology. 2009;72(9):782-3
    PubMed PMID: 19073943

    Borck G, Seewi O, Jung A, Schönau E, Kubisch C
    Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister
    J Clin Endocrinol Metab. 2009;94(6):2106-9
    PubMed PMID: 19318451

    Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P
    Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two
    Neuromuscul Disord. 2009;19(3):223-8
    PubMed PMID: 19208478

    Schmitz D, Netzer C, Henn W
    An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis
    Nat Rev Genet. 2009;10(8):515
    PubMed PMID: 19546855

    Bolz HJ
    Genetics of Usher syndrome
    Ophthalmologe. 2009;106(6):496-504
    PubMed PMID: 19495774

    Savaskan NE, Hahnen E, Eyüpoglu IY
    The x(c)(-) cystine/glutamate antiporter (xCT) as a potential target for therapy of cancer: yet another cytotoxic anticancer approach?
    J Cell Physiol. 2009;220(2):531-2
    PubMed PMID: 19415694

    Garbes L, Riessland M, Hölker I, Heller R, Hauke J, Tränkle C, Coras R, Blümcke I, Hahnen E, Wirth B
    LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
    Hum Mol Genet. 2009 Oct 1;18(19):3645-58. Epub 2009 Jul 7
    PubMed PMID: 19584083

    Engelhorn T, Savaskan NE, Schwarz MA, Kreutzer J, Meyer EP, Hahnen E, Ganslandt O, Dörfler A, Nimsky C, Buchfelder M, Eyüpoglu IY
    Cellular characterization of the peritumoral edema zone in malignant brain tumors
    Cancer Sci. 2009t;100(10):1856-62
    PubMed PMID: 19681905

    Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U
    Mutations in PYCR1 cause cutis laxa with progeroid features
    Nat Genet. 2009;41(9):1016-21
    PubMed PMID: 19648921

    Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C
    ATP13A2 variants in early-onset Parkinson's disease patients and controls
    Mov Disord. 2009;24(14):2104-11
    PubMed PMID: 19705361

    Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL
    Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
    Hum Mutat. 2009;30(12):1667-75
    PubMed PMID: 19810119

    Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA
    ALX4 dysfunction disrupts craniofacial and epidermal development
    Hum Mol Genet. 2009;18(22):4357-66
    PubMed PMID: 19692347

    Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R
    Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
    Clin Genet. 2009;76(2):168-78
    PubMed PMID: 19780763

    Karsak M, Malkin I, Toliat MR, Kubisch C, Nürnberg P, Zimmer A, Livshits G
    The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample
    Hum Genet. 2009;126(5):629-36
    PubMed PMID: 19565271

    Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M
    Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
    Eur J Med Genet. 2009;52(4):180-4
    PubMed PMID: 19332161

    Krones T, Schmitz D, Heen W, Netzer C
    Das neue Gendiagnostikgesetz. Implikationen für die Beratung von Schwangeren zur vorgeburtlichen Diagnostik
    Ethik Med. 2009; 21: 333-40
    Abstract , Full Text (PDF)

    Schmitz D, Henn W, Netzer C
    Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing
    BMJ. 2009;339:b2690
    PubMed PMID: 19581325

    Siebzehnrubl FA, Jeske I, Müller D, Buslei R, Coras R, Hahnen E, Huttner HB, Corbeil D, Kaesbauer J, Appl T, von Hörsten S, Blümcke I
    Spontaneous in vitro transformation of adult neural precursors into stem-like cancer cells
    Brain Pathol. 2009;19(3):399-408
    PubMed PMID: 18637011

    Bchetnia M, Charfeddine C, Kassar S, Hanchi I, Tounsi-Guettiti H, Rebai A, Osman AD, Kubisch C, Abdelhak S, Boubaker S, Mokni M
    Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families
    J Dermatol Sci. 2009;54(1): 54-6
    PubMed PMID: 19136236

    Elçioglu NH, Pawlik B, Colak B, Beck M, Wollnik B
    A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D
    Genet Couns. 2009;20(2):133-9
    PubMed PMID: 19650410

     

    2008

    Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, Nickenig G, Grohé C
    A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease
    Clin Res Cardiol. 2008; 97(1):39-42
    PubMed PMID: 17891520

    Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA
    Skewed X-inactivation in an X-linked Nystagmus Family Resulted From a Novel, p.R229G, Missense Mutation in the FRMD7
    Br J Ophthalmol. 2008; 92(1):135-41
    PubMed PMID: 17962394

    Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen TA, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P, Wollnik B, Krawczak M, Labuda D, Utermann G
    Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations
    J Med Genet. 2008 ;45(4):200-9
    PubMed PMID: 17965227

    Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nurnberg P, Ptacek LJ, Gobel H, Todt U, Kubisch C
    Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura
    Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41
    PubMed PMID: 17680603

    Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
    Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    Clin Genet. 2008;73(1):62-70
    PubMed PMID: 18042262

    Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
    Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
    Am J Hum Genet. 2008; 82(2):464-76
    PubMed PMID: 18252226

    Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H
    Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
    Am J Hum Genet. 2008;82(1):125-38
    PubMed PMID: 18179891

    Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B
    Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
    Hum Genet. 2008;123(2):141-53
    PubMed PMID: 18172693

    Hahnen E, Hauke J, Tränkle C, Eyüpoglu IY, Wirth B, Blümcke I
    Histone deacetylase inhibitors: possible implications for neurodegenerative disorders
    Expert Opin Investig Drugs. 2008; 17(2):169-84
    PubMed PMID: 18230051

    Becirovic E, Ebermann I, Nagy D, Zrenner E, Seeliger MW, Bolz HJ
    Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing
    Hum Mutat. 2008; 29(3): 452
    PubMed PMID: 18273900

    Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U
    Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
    Hum Mutat. 2008;29(5):709-717
    PubMed PMID: 18300272

    Pasternack SM, von Kügelgen I, Aboud KA, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC
    G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
    Nat Genet. 2008;40(3):329-34
    PubMed PMID: 18297070

    Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B
    Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    Science. 2008;320(5875):524-7
    PubMed PMID: 18440926

    Savaskan NE, Heckel A, Hahnen E, Engelhorn T, Doerfler A, Ganslandt O, Nimsky C, Buchfelder M, Eyüpoglu IY
    Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema
    Nat Med. 2008;14(6):629-32
    PubMed PMID: 18469825

    Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ
    Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
    Neurology. 2008;70(24):2343-4
    PubMed PMID: 18541889

    Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K
    Congenital heart disease is a feature of severe infantile spinal muscular atrophy
    J Med Genet. 2008;45(10):635-8
    PubMed PMID: 18662980

    Peter BF, Lidington D, Harada A, Bolz HJ, Vogel L, Heximer S, Spiegel S, Pohl U, Bolz SS
    Role of sphingosine-1-phosphate phosphohydrolase 1 in the regulation of resistance artery tone
    Circ Res. 2008;103(3):315-24
    PubMed PMID: 18583713

    Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, T Te Beek E, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F
    tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
    Nat Genet. 2008;40(9):1113-8
    PubMed PMID: 18711368

    Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen M, Goossens D, Favero J, Sanati M, Smith R, Van Camp G
    Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
    Clin Genet. 2008;74(3):223-32
    PubMed PMID: 18616530

    Tatenhorst L, Hahnen E, Heneka MT
    Peroxisome Proliferator-Activated Receptors (PPARs) as Potential Inducers of Antineoplastic Effects in CNS Tumors
    PPAR Res. 2008; 2008: 204514
    PubMed PMID: 18725982

    Siebzehnrubl FA, Jeske I, Müller D, Buslei R, Coras R, Hahnen E, Huttner HB, Corbeil D, Kaesbauer J, Appl T, von Hörsten S, Blümcke I
    Spontaneous In Vitro Transformation of Adult Neural Precursors into Stem-Like Cancer Cells
    Brain Pathol. 2009;19(3):399-408
    PubMed PMID: 18637011

    Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W
    Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
    Mol Vis. 2008;14:1081-93
    PubMed PMID: 18552978

    Netzer C, Freudenberg J, Heinze A, Heinze-Kuhn K, Goebel I, McCarthy LC, Roses AD, Göbel H, Todt U, Kubisch C
    Replication study of the insulin receptor gene in migraine with aura
    Genomics. 2008;91(6):503-7
    PubMed PMID: 18455362

    Nyholt DR, Laforge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A
    A high-density association screen of 155 ion transport genes for involvement with common migraine
    Hum Mol Genet. 2008;17(21):3318-31
    PubMed PMID: 18676988

    Seufert S, Coras R, Tränkle C, Zlotos DP, Blümcke I, Tatenhorst L, Heneka MT, Hahnen E
    PPAR Gamma Activators: Off-Target Against Glioma Cell Migration and Brain Invasion
    PPAR Res. 2008;2008:513946
    PubMed PMID: 18815619

    Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A
    A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family
    Am J Med Genet A. 2008;146A(23):3086-9
    PubMed PMID: 18973245

    Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J
    A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
    BMC Med Genet. 2008;9:102
    PubMed PMID: 19014451

     

    2007

    Siebzehnrübl FA, Buslei R, Eyüpoglu IY, Seufert S, Hahnen E and Blümcke I
    Histone Deacetylase Inhibitors Increase Neuronal Differentiation in Adult Forebrain Stem and Progenitor Cells
    Exp Brain Res. 2007; 176(4):672-8
    PubMed PMID: 17216146

    Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mulsch A, Nussbaum RL, Muller K, Drose S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G
    Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6
    Neurobiol Dis. 2007; 25(2):401-11
    PubMed PMID: 17141510

    Rudnik-Schoneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schroder R, Wehnert M, Wirth B, Zerres K
    Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
    Neurogenetics. 2007; 8(2):137-42
    PubMed PMID: 17136397

    Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti M, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C
    Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
    Circulation. 2007; 15(4):442-9
    PubMed PMID: 17224476

    Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies HC, Becker C, Nürnberg P, Basaran S, Yüksel Apak M, Wollnik B
    A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3
    Clin Genet. 2007; 71(3):212-9
    PubMed PMID: 17309643

    Ebermann I, Walger M, Scholl HP, Issa PC, Luke C, Nurnberg G, Lang-Roth R, Becker C, Nurnberg P, Bolz HJ
    Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
    Hum Mutat. 2007; 28(6):571-7
    PubMed PMID: 17301963

    Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H
    A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    Hum Genet. 2007; 121(2):203-11
    PubMed PMID: 17171570

    Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martinez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L
    X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
    Genet Med. 2007; 9(1):52-60
    PubMed PMID: 17224690

    Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ
    Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    Genome Biol. 2007; 8(4):R47
    PubMed PMID: 17407589

    Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F
    Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
    Am J Hum Genet. 2007; 80(5):971-81
    PubMed PMID: 17436252

    Coras R, Holsken A, Seufert S, Hauke J, Eyupoglu IY, Reichel M, Trankle C, Siebzehnrubl FA, Buslei R, Blumcke I, Hahnen E
    The peroxisome proliferator-activated receptor-gamma agonist troglitazone inhibits transforming growth factor-beta-mediated glioma cell migration and brain invasion
    Mol Cancer Ther. 2007; 6(6):1745-54
    PubMed PMID: 17541035

    Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H
    Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
    Hum Mutat. 2007; 28(7):718-23
    PubMed PMID: 17373699

    Frank V, Ortiz Bruchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C
    Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
    Hum Mutat. 2007; 28(6):638-9
    PubMed PMID: 17437276

    Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG
    Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
    Hum Mol Genet. 2007; 16(12):1488-94
    PubMed PMID: 17478476

    Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO
    A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
    Hum Genet. 2007; 122(2):191-9
    PubMed PMID: 17569090

    Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA
    Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
    Am J Med Genet A. 2007; 143(12):1308-12
    PubMed PMID: 17506091

    Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ
    Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome
    Mol Vis. 2007; 13: 1539-47
    PubMed PMID: 17893653

    Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I
    Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway
    Mol Cell Biol. 2007; 27:6903-12
    PubMed PMID: 17682060

    Kubisch C
    Genetische Grundlagen der Migräne
    Med Gen. 2007; 19:330-4
    [SpringerLink / Medizinische Genetik]

    Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H
    MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    Am J Med Genet A. 2007;143:2382-9
    PubMed PMID: 17853461

    Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J
    Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation
    Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19802-7
    PubMed PMID: 18056630

    Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
    Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C
    Mol Vis. 2007;13:1862-5
    PubMed PMID: 17960123

    Wirth B, Riessland M, Hahnen E
    Drug discovery for spinal muscular atrophy
    Expert Opin Drug Discov. 2007; 2(4): 437-51
    [IngentaConnect]

    Boyadjiev SA, International Craniosynostosis Consortium (Wollnik B)
    Genetic analysis of non-syndromic craniosynostosis
    Orthod Craniofac Res. 2007; 10(3):129-37
    PubMed PMID: 17651129
    [Blackwell Publishing / Blackwell Synergy]

     

    2006

    Tagariello A, Heller R, Greven A, Kalscheuer VM, Molter T, Rauch A, Kress W, Winterpacht A
    Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region
    J Med Genet. 2006;43(6):534-40
    PubMed PMID: 16258006

    Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B
    Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
    J Med Genet. 2006;43(2):e5
    PubMed PMID: 16467215

    Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C
    Haplotype-based systematic association studies of ATP1A2 in migraine with aura
    Am J Med Genet B Neuropsychiatr Genet. 2006;141B(3):257-260
    PubMed PMID: 16508935

    Netzer C, Bohlander SK, Hinzke M, Chen Y, Kohlhase J
    Defining the heterochromatin localization and repression domains of SALL1
    Biochim Biophys Acta. 2006 Mar; 1762(3):386-91
    PubMed PMID: 16508935

    Buslei R, Kreutzer J, Hofmann B, Schmidt V, Siebzehnrubl F, Hahnen E, Eyupoglu IY, Fahlbusch R, Blumcke I
    Abundant hypermethylation of SOCS-1 in clinically silent pituitary adenomas
    Acta Neuropathol (Berl). 2006;111(3):264-71
    PubMed PMID: 16421738

    Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R
    Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    Hum Genet. 2006;119(4):422-8
    PubMed PMID: 16508748

    Li Y, Wollnik B, Pabst S, Lennarz M, Rohmann E, Gillissen A, Vetter H, Grohe C
    BTNL2 gene variant and sarcoidosis
    Thorax. 2006;61(3):273-4
    PubMed PMID: 16517590

    Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B
    Mutations in different components of FGF signaling in LADD syndrome
    Nat Genet. 2006;38(4):414-7
    PubMed PMID: 16501574

    Schoenen F, Wirth B
    The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB
    Biol Chem. 2006;387(3):277-84
    PubMed PMID: 16542149

    Brichta L, Holker I, Haug K, Klockgether T, Wirth B
    In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
    Ann Neurol. 2006;59(6):970-5
    PubMed PMID: 16607616

    Holsken A, Eyupoglu IY, Lueders M, Trankle C, Dieckmann D, Buslei R, Hahnen E, Blumcke I, Siebzehnrubl FA
    Ex vivo therapy of malignant melanomas transplanted into organotypic brain slice cultures using inhibitors of histone deacetylases
    Acta Neuropathol (Berl). 2006;112(2):205-15
    PubMed PMID: 16773328

    Fyfe JC, Menotti-Raymond M, David VA, Brichta L, Schaffer AA, Agarwala R, Murphy WJ, Wedemeyer WJ, Gregory BL, Buzzell BG, Drummond MC, Wirth B, O'brien SJ
    An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
    Genome Res. 2006;16(9):1084-90
    PubMed PMID: 16899656

    Hahnen E, Eyupoglu IY, Brichta L, Haastert K, Trankle C, Siebzehnrubl FA, Riessland M, Holker I, Claus P, Romstock J, Buslei R, Wirth B, Blumcke I
    In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
    J Neurochem. 2006l;98(1):193-202
    PubMed PMID: 16805808

    Riessland M, Brichta L, Hahnen E, Wirth B
    The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
    Hum Genet. 2006;120(1):101-10
    PubMed PMID: 16724231

    Eyupoglu IY, Hahnen E, Trankle C, Savaskan NE, Siebzehnrubl FA, Buslei R, Lemke D, Wick W, Fahlbusch R, Blumcke I
    Experimental therapy of malignant gliomas using the inhibitor of histone deacetylase MS-275
    Mol Cancer Ther. 2006;5(5):1248-55
    PubMed PMID: 16731757

    Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schroder R, Weber RG, Kornblum C
    Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion
    Acta Neurol Scand. 2006;114(2):133-8
    PubMed PMID: 16867037

    Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nurnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
    Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
    Hum Mutat. 2006;27(7):633-9
    PubMed PMID: 16752389

    Uyguner ZO, Siva A, Kayserili H, Saip S, Altintas A, Apak MY, Albayram S, Isik N, Akman-Demir G, Tasyurekli M, Oz B, Wollnik B
    The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome
    J Neurol Sci. 2006;246(1-2):123-30
    PubMed PMID: 16730748

    Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C
    Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    Nat Genet. 2006;38(10):1184-91
    PubMed PMID: 16964263

    Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F
    Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
    Hum Genet. 2006;119(6):649-58
    PubMed PMID: 16738948

    Todt U, Freudenberg J, Goebel I, Netzer C, Heinze A, Heinze-Kuhn K, Gobel H, Kubisch C
    MTHFR C677T polymorphism and migraine with aura
    Ann Neurol. 2006;60(5):621-2; author reply 622-3
    PubMed PMID: 16800002

    Todt U, Freudenberg J, Goebel I, Heinze A, Heinze-Kuhn K, Rietschel M, Göbel H, Kubisch C
    Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura
    Neurology. 2006;67(9):1707-9
    PubMed PMID: 17101915

    Wirth B, Brichta L, Hahnen E
    Spinal muscle Atrophy: From gene to therapy
    Semin Pediatr Neurol. 2006; 13: 121-31. BUCHBEITRAG
    PubMed PMID: 17027862

    Wirth B, Brichta L, Hahnen E
    Spinal muscular atrophy and therapeutic prospects
    Prog Mol Subcell Biol. 2006;44:109-32
    PubMed PMID: 17076267
    Springer ISBN-10: 3-540-34448-9, ISBN-13: 978-3-540-34448-3

     

    2005

    Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B
    Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
    Hum Mutat. 2005;25(1):64-71
    PubMed PMID: 15580564

    Stefanova M, Meinecke P, Gal A, Bolz H
    A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype
    Am J Med Genet A. 2005;132(4):386-90
    PubMed PMID: 15654694

    Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K
    Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
    Eur J Hum Genet. 2005;13(5):563-9
    PubMed PMID: 15770227

    Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Gobel H, Kubisch C
    Rare missense variants in ATP1A2 in families with clustering of common forms of migraine
    Hum Mutat. 2005;26(4):315-21
    PubMed PMID: 16110494

    Buslei R, Nolde M, Hofmann B, Meissner S, Eyupoglu IY, Siebzehnrubl F, Hahnen E, Kreutzer J, Fahlbusch R
    Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region
    Acta Neuropathol (Berl). 2005;109(6):589-97
    PubMed PMID: 15891929

    Eyupoglu IY, Hahnen E, Heckel A, Siebzehnrubl FA, Buslei R, Fahlbusch R, Blumcke I
    Malignant glioma-induced neuronal cell death in an organotypic glioma invasion model. Technical note
    J Neurosurg. 2005;102(4):738-44.
    PubMed PMID: 15871520

    Eyupoglu IY, Hahnen E, Buslei R, Siebzehnrubl FA, Savaskan NE, Luders M, Trankle C, Wick W, Weller M, Fahlbusch R, Blumcke I
    Suberoylanilide hydroxamic acid (SAHA) has potent anti-glioma properties in vitro, ex vivo and in vivo
    J Neurochem. 2005;93(4):992-9
    PubMed PMID: 15857402

    Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E
    A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
    Hum Genet. 2005;118(2):261-6
    PubMed PMID: 16151858

    Madrid RE, Kubisch C, Hays AP
    Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
    Neurology 2005;65:1301-1303
    PubMed PMID: 16247063

    Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H
    A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
    J Mol Med. 2005;83(12):1025-32
    PubMed PMID: 16283141

    Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A
    Cannabinoid receptor type 2 gene is associated with human osteoporosis
    Hum Mol Genet. 2005;14(22):3389-99
    PubMed PMID: 16204352

    Bolz H, Ebermann I, Gal A
    Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies
    Mol Vis. 2005;11:929-933
    PubMed PMID: 16288196

    Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K
    134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy
    11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15(11):802-16
    PubMed PMID: 16202598

    Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R
    Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
    J Neurol. 2005;252(5):538-47
    PubMed PMID: 15726252

    Kubisch C, Ketelsen UP, Goebel I, Omran H
    Autosomal recessive rippling muscle disease with homozygous CAV3 mutations
    Ann Neurol 2005; 57: 303-304
    PubMed PMID: 15668980

    Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin S, Hennies HC, Nurnberg P, Desnick RJ, and Wollnik B
    A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
    J Med Genet 2005; 42: 408-415
    PubMed PMID: 15863670

    Bolz H
    Genetics of retinal dystrophies - an overview
    Ophthalmologe. 2005;102(7):661-73
    PubMed PMID: 15782291
    Der Ophtalmologe

    Kubisch C
    Genetische Grundlagen nichtsyndromaler Hörstörungen
    Deutsches Ärzteblatt. 2005, A2946 – A2953
    Deutsches Ärzteblatt

     

    2004

    Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A
    Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)
    Hum Mutat. 2004;24(3):274-5
    PubMed PMID: 15300860

    Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O
    Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
    Hum Mutat. 2004;24(4):321-9
    PubMed PMID: 15365989

    Jeron A, Hengstenberg C, Holmer S, Wollnik B, Riegger GA, Schunkert H, Erdmann J
    KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction
    J Mol Cell Cardiol. 2004;36(2):287-93
    PubMed PMID: 14871556

    Brichta L, Hahnen E, Haug K, Stier S, Klockgether T, Wirth B
    Einfluss von Valproinsäure auf den SMN2-Proteinlevel: Eine gut bekannte Substanz als mögliche Therapie der spinalen Muskelatrophie
    Jahrbuch der Neuromuskulären Erkrankungen (2004), Arcis Verlag, ISSN 1435-4209

    Basaran S, Engur A, Aytan M, Karaman B, Ghanbari A, Toksoy G, Yuksel A, Cankat D, Kervancioglu E, Wollnik B, Bahceci M, Yuksel-Apak M
    The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses
    Fetal Diagn Ther. 2004 Jul-Aug;19(4):313-8
    PubMed PMID: 15192289