期刊： HUMAN GENETICS, 2022; 141 (3-4)
Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We cl......
期刊： HUMAN GENETICS, 2022; 141 (2)
Recombination is a major force that shapes genetic diversity. Determination of recombination rate is important and can theoretically be improved by in......
期刊： HUMAN GENETICS, 2022; 141 (12)
46,XY disorders of sex development (DSD) present with diverse phenotypes and complicated genetic causes. Precise genetic diagnosis contributes to accu......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
Pathogenic variations in the OTOF gene are a common cause of hearing loss. To refine the natural history and genotype-phenotype correlations of OTOF-r......
期刊： HUMAN GENETICS, 2022; 141 (8)
Up to 84% of patients with congenital pseudarthrosis of the tibia (CPT) present with neurofibromatosis type 1 (NF1) (NF1-CPT). However, the etiology o......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-onychodystr......
期刊： HUMAN GENETICS, 2022; 141 (6)
Epistatic interactions complicate the identification of variants involved in phenotypic effect. In-depth knowledge in modifiers and in pathogenic vari......
期刊： HUMAN GENETICS, 2022; 141 (8)
Defective left-right (LR) pattering results in a spectrum of laterality disorders including situs inversus totalis (SIT) and heterotaxy syndrome (Htx)......
期刊： HUMAN GENETICS, 2022; 141 (11)
Non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) represent the most serious forms of human infertility caused by gametogeni......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
Numerous computational prediction tools have been introduced to estimate the functional impact of variants in the human genome based on evolutionary c......
期刊： HUMAN GENETICS, 2022; 141 (12)
Background We aimed to evaluate the potential role of antagonistic selection in polygenic diseases: if one variant increases the risk of one disease a......
期刊： HUMAN GENETICS, 2021; 140 (9)
We investigated the relationship between neuroticism and 16 mental and 18 physical traits using summary results of genome-wide association studies for......
