Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue (2023) Tauber CV, Schwarz SC, Rösler TW, Arzberger T, Gentleman S, Windl O, Krumbiegel M, et al. Journal article Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome (2023) Hirbo JB, Pasutto F, Gamazon ER, Evans P, Pawar P, Berner D, Sealock J, et al. Journal article Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2 (2023) Zuhair Kassem T, Wunderle M, Kuhlmann L, Rübner M, Hübner H, Hoyer J, Reis A, et al. Journal article LHX2 haploinsufficiency causes a variable neurodevelopmental disorder (2023) Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, et al. Journal article Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons (2023) Asadollahi R, Delvendahl , Muff R, Tan G, Rodrieguez DG, Turan S, Russo M, et al. Journal article Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? (2023) Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023) Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al. Journal article CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review (2023) Al-Kateb H, Au PY, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, et al. Journal article Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay (2023) Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, et al. Journal article