Other publications in Human mutation

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded b...

Published in May 18, 2018

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuro...

Published in Mar 01, 2018

An evaluation of the challenges to developing tumour BRCA1 and BRCA2 testing methodologies for clini...

Published in Dec 07, 2017

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals wit...

Published in Dec 01, 2017

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome...

Published in Dec 01, 2017