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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by arrayExpand
Genome sequencing identifies major causes of severe intellectual disability
Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID. Expand
De novo mutations in human genetic disease
Recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia are discussed. Expand
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
Mutations in the CC domain of STAT1 underlie autosomal dominant CMC and lead to defective Th1 and Th17 responses, which may explain the increased susceptibility to fungal infection. Expand
Genetic studies in intellectual disability and related disorders
The insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy are highlighted and the future directions of genetics research for ID and related neurodevelopmental disorders are discussed. Expand
A recent bottleneck of Y chromosome diversity coincides with a global change in culture.
A study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples, infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky, and hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males. Expand
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9Expand
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
The results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes. Expand
Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus
It is shown that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. Expand
A de novo paradigm for mental retardation
This work identified and validated unique non-synonymous de novo mutations in nine genes and identified six likely to be pathogenic based on gene function, evolutionary conservation and mutation impact that could explain the majority of all mental retardation cases in the population. Expand