Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction (2019) Tiosano D, Baris HN, Chen A, Hitzert MM, Schüler M, Gulluni F, Wiesener A, et al. Journal article Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma (2019) Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, et al. Journal article The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019) Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al. Journal article Tyrosinase is a novel endogenous inhibitor of lymphangiogenesis (2019) Clahsen T, Büttner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C Conference contribution Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article, Erratum CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) (2019) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article, Erratum De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019) Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article 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 Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia (2019) Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, et al. Journal article