期刊： HUMAN MUTATION, 2022; 43 (5)
Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritiz......
期刊： HUMAN MUTATION, 2022; 43 (9)
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, ki......
期刊： HUMAN MUTATION, 2022; 43 (12)
Synonymous variants have been shown to alter the correct splicing of pre-mRNAs and generate disease-causing transcripts. These variants are not an unc......
期刊： HUMAN MUTATION, 2022; 43 (8)
Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardi......
期刊： HUMAN MUTATION, 2022; 43 (4)
Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is......
期刊： HUMAN MUTATION, 2022; 43 (6)
The use of whole-genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing i......
期刊： HUMAN MUTATION, 2022; 43 (5)
Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted......
期刊： HUMAN MUTATION, 2022; 43 (6)
Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). The main goal addressed by version 1 of the B......
期刊： HUMAN MUTATION, 2022; 43 (8)
Rare disease diagnostics and disease gene discovery have been revolutionized by whole-exome and genome sequencing but identifying the causative varian......
期刊： HUMAN MUTATION, 2022; 43 (9)
Cornelia de Lange syndrome (CdLS) is a clinically-recognizable rare developmental disorder. About 70% of patients carry a missense or loss-of-function......
期刊： HUMAN MUTATION, 2022; 43 (11)
Making a specific diagnosis in neurodevelopmental disorders is traditionally based on recognizing clinical features of a distinct syndrome, which guid......
期刊： HUMAN MUTATION, 2022; 43 (9)
The recent identification of noncoding variants with pathogenic effects suggests that these variations could underlie a significant number of undiagno......
期刊： HUMAN MUTATION, 2022; 43 (10)
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are freque......
期刊： HUMAN MUTATION, 2022; 43 (11)
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episign......
期刊： HUMAN MUTATION, 2022; 43 (1)
Costello syndrome (CS) is an autosomal-dominant disorder characterized by distinctive facial features, hypertrophic cardiomyopathy, skeletal abnormali......
