Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Nature · 568 citations
https://doi.org/10.1038/s41586-020-2434-2
F
Florent Soubrier
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Florent Soubrier is an academic researcher. The author has contributed to research in topics: Pulmonary Hypertension Research and Treatments & Renin-Angiotensin System Studies & Hormonal Regulation and Hypertension. The author has an h-index of 78, co-authored 289 publications.
ORCID: 0000-0003-2571-7932Papers by this author
worksIdentification of rare sequence variation underlying heritable pulmonary arterial hypertension
2018 · Nature Communications · 369 citations
https://doi.org/10.1038/s41467-018-03672-4
Germline selection shapes human mitochondrial DNA diversity
2019 · Science · 247 citations
https://doi.org/10.1126/science.aau6520
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
2018 · The Lancet Respiratory Medicine · 203 citations
https://doi.org/10.1016/s2213-2600(18)30409-0
Identification of Hypoxia-response Element in the Human Endothelial Nitric-oxide Synthase Gene Promoter
2003 · Journal of Biological Chemistry · 199 citations
https://doi.org/10.1074/jbc.m305420200
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
2016 · Nature Communications · 94 citations
https://doi.org/10.1038/ncomms12675
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