We identified four different missense mutations in the single-exon gene MAB21L2 in eight
individuals with bilateral eye malformations from five unrelated families via three independent …

Kinases still remain the most favorable members of the druggable genome, and there are
an increasing number of kinase inhibitors approved by the FDA to treat a variety of cancers. …

Analysing the factors behind protein stability is a key research topic in molecular biology and
has direct implications on protein structure prediction and protein-protein docking solutions. …

The relationship between the conformational stability and chemical integrity of a protein is of
particular importance to understanding the mechanisms of protein folding and inactivation. …

Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging
de novo mutations (DNMs) in developmentally important genes. We exome sequenced …

… Parthiban Vijayarangakannan developed the unpublished CoNVex program. We acknowledge
the support of the National Institute for Health Research, through the Comprehensive …

Supplementary figure S2 Depth of sequence coverage across DYNC2H1 using different
exome sequencing kits Representative samples of coverage achieved using the different …

… Saeed Al Turki and Parthiban Vijayarangakannan assisted in the analytical framework.
Petr Danchek helped with SNP allelic codings, and Larry Singh helped with statistics …

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a
leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are …

… We would like to thank Frances Law and Alastair Beasley for technical assistance and
Sajani Swamy and Parthiban Vijayarangakannan for informatics support. The work described …