Institute of Human Genetics

Is MED13L-related intellectual disability a recognizable syndrome? (2018) Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, et al. Journal article CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria (2018) Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching P, Thiel C, et al. Journal article Chromatin-Remodeling Factor SPOC1 Acts as a Cellular Restriction Factor against Human Cytomegalovirus by Repressing the Major Immediate Early Promoter (2018) Reichel A, Stilp AC, Scherer M, Reuter N, Lukassen S, Kasmapour B, Schreiner S, et al. Journal article Tyrosinase is a novel endogenous regulator of developmental and inflammatory lymphangiogenesis (2018) Büttner C, Clahsen T, Regenfuss B, Dreisow ML, Steiber Z, Bock F, Reis A, Cursiefen C Journal article Tyrosinase downregulates Fibromodulin- induced lymphangiogenesis (2018) Clahsen T, Regenfuss B, Büttner C, Gabriel T, Bock F, Reis A, Cursiefen C Conference contribution Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018) Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al. Journal article RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects (2018) Pasutto F, Zenkel M, Berner D, Uebe S, Ekici AB, Kruse F, Reis A, Schlötzer-Schrehardt U Conference contribution Nutritional and hormonal regulation of lysyl oxidase-like 1 and elastic proteins involved in pseudoexfoliation syndrome/glaucoma (2018) Zenkel M, Berner D, Hoja U, Pasutto F, Kruse F, Schlötzer-Schrehardt U Conference contribution