Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

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 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 Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025) Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, et al. Journal article The Genetics of Intelligence (2025) Reis A, Spinath FM Journal article, Review article Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. (2025) De Hayr L, Blok LE, Dias KR, Long J, Begemann A, Moir RD, Willis IM, 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 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 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