Nicholas Stuart Tudor Thomas

TL;DR: Since its inception, HGMD has been expanded to include cDNA reference sequences for more than 87% of listed genes, splice junction sequences, disease‐associated and functional polymorphisms, as well as links to data present in publicly available online locus‐specific mutation databases.

TL;DR: Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics.

TL;DR: The positional cloning of the gene mutated in EDA is described, which encode a predicted 135–residue transmembrane protein that may belong to a novel class with a role in epithelial–mesenchymal signalling.

TL;DR: A meta‐analysis of 478 disease‐associated splicing mutations, in 38 different genes, reveals that exon skipping was the preferred phenotype when the immediate vicinity of the affected exon–intron junctions was devoid of alternative splice‐sites, and estimates that some 1.6% of disease‐causing missense substitutions in human genes are likely to affect the mRNA splicing phenotype.

TL;DR: These data represent results from the first study to correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype, and the biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.