Institute of Human Genetics

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome (2024) Chiu C, Küchler A, Depienne C, Preuße C, Marina AD, Reis A, Kaiser FJ, et al. Journal article Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer (2024) Fasching P, Hu C, Hart SN, Rübner M, Polley EC, Gnanaolivu RD, Hartkopf AD, et al. Journal article Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors (2024) Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, et al. Journal article Alpha-synuclein fine-tunes neuronal response to pro-inflammatory cytokines (2024) Sigutova V, Xiang W, Regensburger M, Winner B, Prots I Journal article Benchmarking whole exome sequencing in the German network for personalized medicine (2024) Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, Seillier L, et al. Journal article EZH2 specifically regulates ISL1 during embryonic urinary tract formation (2024) Mingardo E, Kalanithy JC, Dworschak G, Ishorst N, Yilmaz Ö, Lindenberg T, Hollstein R, et al. Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article, Erratum ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons (2024) Oliveira D, Assoni AF, Alves LM, Sakugawa A, Melo US, Teles e Silva AL, Sertie AL, et al. Journal article DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article