Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases (2022) Wopperer F, Knaup K, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, et al. Journal article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021) Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation (2021) Schwarz H, Popp B, Airik R, Torabi Sarijalo N, Knaup K, Stoeckert J, Wiech T, et al. Journal article, Original article Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021) De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al. Conference contribution The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse (2021) Wittmann MT, Katada S, Sock E, Kirchner P, Ekici AB, Wegner M, Nakashima K, et al. Journal article, Original article Genetic variability of lymphangiogenesis in Collaborative Cross mice: a powerful tool to identify novel endogenous regulators of lymphangiogenesis (2021) Clahsen T, Büttner C, Hatami N, Nuest F, Gabriel T, Reis A, Cursiefen C Conference contribution