Jennifer D. Jolley

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Panos Deloukas, Audrey Duncanson, Dominic Kwiatkowski et al. · Nature · 2007 · 9.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 426 citations

Life Sciences, Genetics, Molecular Genetics +6

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan Stephens, Fengyuan Hu et al. · Blood · 2016 · 185 citations · Full text

Medicine, Genetics, Hematology +16

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Sarah K. Westbury, Ernest Turro, Daniel Greene et al. · Genome Medicine · 2015 · 125 citations · Full text

Medicine, Genetics, Hematology +17