Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Novel COL4A1 missense variant in a case of juvenile stroke (2025) Kretz A, Arbeiter M, Strobel J, Blum K, Frischholz B, Rödiger A, Hackstein H, et al. Journal article Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype (2025) Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, et al. Journal article Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD? (2025) Schubart C, Tögel L, Carta MG, Hetzner P, Helbig L, Zaglas C, Ziegler M, et al. Journal article A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes (2025) Schweiger M, Reis A, Gümüslü E, Krebsova A, Raab A, Lang C, Horn D, et al. Journal article A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation (2025) Furlanetto F, Flegel N, Kremp M, Spear C, Fröb F, Alfonsetti M, Bohl B, et al. Journal article Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Exploring Differentially Expressed Genes and Understanding the Underlying Mechanisms in Glioblastoma (2025) Seven D, Ekici AB, Uebe S, Bilgiç B, Sencer A, Aydoseli A, Reis A, Buyru N Journal article Young woman with multiple bilateral ovarian masses Junge Frau mit multiplen Raumforderungen beider Ovarien (2025) Hosten AK, Homeister S, Strauß HG, Fathke C, Reis A, Wallwiener M Journal article Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease (2025) Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CV, Mavraki E, Elbracht M, et al. Journal article Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (2025) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, et al. Journal article