Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

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 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 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 Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1 (2018) Berner D, Pasutto F, Hoja U, Zenkel M, Ozaki M, Williams S, Ramsay M, et al. Conference contribution Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome (2018) Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C Journal article Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018) Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article