genetikum – Genetische Beratung & Diagnostik

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia (2026) Menden B, Incebacak Eltemur RD, Demidov G, Sturm M, Park J, Huridou C, Fath F, et al. Journal article Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial (2024) Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, et al. Journal article Epidemiology of inherited Epidermolysis bullosa in Germany (2023) Has C, Hess M, Anemueller W, Blume-Peytavi U, Emmert S, Foelster-Holst R, Frank J, et al. Journal article, Original article Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany (2023) Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, et al. Journal article Epidemiology of inherited epidermolysis bullosa in Germany (2022) Has C, Hess M, Anemueller W, Blume-Peytavi U, Emmert S, Foelster-Holst R, Frank J, et al. Journal article Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome (2019) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Conference contribution Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? (2019) Abicht A, Neuhann T, Mehnert L, Rost I, Wiesmann da Silva Reis A, Zweier C, Holinski-Feder E Journal article, Review article Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Journal article Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy (2018) Mengel D, Librizzi D, Schoser B, Glaeser D, Clemen CS, Dodel R, Schröder R Journal article Genetic diagnosis of Mendelian disorders via RNA sequencing (2017) Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, et al. Journal article