Whole-genome sequencing of patients with rare diseases in a national health systemErnest Turro, Catherine Williamson, Karyn Mégy et al.|Nature|2020Cited by 581
Identification of rare sequence variation underlying heritable pulmonary arterial hypertensionStefan Gräf, Dan F. Stein, Nicholas W. Morrell et al.|Nature Communications|2018Cited by 382
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disordersKate Downes, Kathleen Freson, Karyn Mégy et al.|Blood|2019Cited by 218
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial HypertensionChristopher J. Rhodes, Martin R. Wilkins, Pavandeep Ghataorhe et al.|Circulation|2016Cited by 214
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysisChristopher J. Rhodes, Stefano Ghio, Ken Batai et al.|The Lancet Respiratory Medicine|2018Cited by 212