Florent Soubrier

发表

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats

Jacques S. Beckmann, Nilesh J. Samani, Christopher Dubay, 1993, Nature Genetics.

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

Stephen Kaptoge, Matthias Wolf, David Montani, 2016, The Lancet. Respiratory medicine.

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Henning Gall, Andrea Olschewski, Horst Olschewski, 2018, Nature Communications.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction

Philippe Amouyel, Laure Lecerf, Florent Soubrier, 1992, Nature.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Jean-Philippe Vert, Etienne Rouleau, Sophie Krieger, 2012, Human mutation.

Molecular basis of human hypertension: Role of angiotensinogen

Steven C. Hunt, Pierre Corvol, Xavier Jeunemaitre, 1992, Cell.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.