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Article
Open AccessThe natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled...
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Article
Open AccessSystematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
The short lengths of short-read sequencing reads challenge the analysis of paralogous genomic regions in exome and genome sequencing data. Most genetic variants within these homologous regions therefore remain...
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Article
Open AccessPhenotypic and molecular insights into CASK-related disorders in males
Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK ...
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Article
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Recently, de novo heterozygous loss-of-function mutations in beta-catenin (CTNNB1) were described for the first time in four individuals with intellectual disability (ID), microcephaly, limited speech and (progre...
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Article
Open AccessAn international effort towards develo** standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices ...
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Article
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
X-linked forms of mental retardation (XLMR) include a variety of different disorders and may account for up to 25% of all inherited cases of mental retardation1. So far, seven X-chromosomal genes mutated in nonsp...
