Institute of Human Genetics

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019) Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article STAT3 activation through IL-6/IL-11 in cancer-associated fibroblasts promotes colorectal tumour development and correlates with poor prognosis (2019) Heichler C, Scheibe K, Schmied A, Geppert CI, Schmid B, Wirtz S, Thoma OM, et al. Journal article Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? (2019) Abicht A, Neuhann T, Mehnert L, Rost I, Wiesmann da Silva Reis A, Zweier C, Holinski-Feder E Journal article, Review article Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, et al. Journal article Impact of single nucleotide polymorphisms in the VEGFR2 gene on endothelial cell activation under non‑uniform shear stress (2019) Schacher N, Raaz-Schrauder D, Pasutto F, Stumpfe FM, Tauchi M, Dietel B, Achenbach S, Urschel K Journal article Locally renewing resident synovial macrophages provide a protective barrier for the joint (2019) Culemann S, Grüneboom A, Nicolás-Ávila JÁ, Weidner D, Lämmle KF, Rothe T, Quintana JA, et al. Journal article Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer (2019) Ruddy KJ, Schaid DJ, Partridge AH, Larson NB, Batzler A, Häberle L, Dittrich R, et al. Journal article PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia (2019) Bastian L, Schroeder MP, Eckert C, Schlee C, Tanchez JO, Kämpf S, Wagner DL, et al. Journal article Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis (2019) Hannemann N, Cao S, Eriksson D, Schnelzer A, Jordan J, Eberhardt M, Schleicher U, et al. Journal article