Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024) Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al. Journal article De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023) Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al. Journal article Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease (GCKD) cohort (2023) Reimer KC, Nadal J, Meiselbach H, Schmid M, Schultheiss UT, Kotsis F, Stockmann H, et al. Journal article 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