James Morris

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish et al. · Science · 2012 · 1.3K citations · Full text

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Ivan L. Ângulo, Oscar Vadas, Fabien Garçon et al. · Science · 2013 · 609 citations · Full text

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors

Christopher G. Smith, Tina Moser, Florent Moulière et al. · Genome Medicine · 2020 · 107 citations · Full text

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants

Tejas Shah, J. Z. Liu, James Floyd et al. · Bioinformatics · 2012 · 103 citations · Full text