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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet. 2019 Oct 3;105(4):836-843.
PubMed PMID: 31564437

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet. 2019;104(4):749-757.
Pubmed PMID: 30905398

Hoyer-Kuhn H, Rehberg M, Netzer C, Schoenau E, Semler O.
Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort.
Orphanet J Rare Dis. 2019 Sep 18;14(1):219.
PubMed PMID: 31533771

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;173(8):2132-2138.
PubMed PMID: 28574232

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

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

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

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

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