Institute of Human Genetics

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 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 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 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 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 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 SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres (2024) Bolsinger M, Drobny A, Wilfling S, Reischl S, Krach F, Moritz R, Balta D, et al. Journal article Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer (2024) Zhang S, Yun D, Yang H, Eckstein M, Elbait GD, Zhou Y, Lu Y, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article