Author details

Full Name

Florent Soubrier

Affiliation

ORCID

Career Start Year

1978

Papers

249

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36852942	T-cell dysregulation and inflammatory process in ()-deficient rats in basal and stress conditions.		2023
36302552	Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.	Eur Respir J	2023
37848456	uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.		2023
37923650	[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].	Rev Mal Respir	2023
36476191	Disruption of GCN2 Pathway Aggravates Vascular and Parenchymal Remodeling during Pulmonary Fibrosis.		2023
35348002	Platelet-Derived Growth Factor Receptor Type Î± Activation Drives Pulmonary Vascular Remodeling Via Progenitor Cell Proliferation and Induces Pulmonary Hypertension.	Journal of the American Heart Association	2022
35629326	The Platelet-Derived Growth Factor Pathway in Pulmonary Arterial Hypertension: Still an Interesting Target?	Life	2022
35618278	An emerging phenotype of pulmonary arterial hypertension patients carrying variants.	European Respiratory Journal	2022
35547535	Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype.	Frontiers in Pediatrics	2022
35238086	Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations.	Journal of the European Academy of Dermatology and Venereology	2022
34588193	Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.	Eur Respir J	2022
34435352	A CELSR1 variant in a patient with pulmonary arterial hypertension.	Clinical Genetics	2021
34071347	Progenitor/Stem Cells in Vascular Remodeling during Pulmonary Arterial Hypertension.	Cells	2021
34344426	Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.	Breast Cancer Research	2021
33380512	Screening for pulmonary arterial hypertension in adults carrying a mutation.	European Respiratory Journal	2021
33021809	Single-Cell Study of Two Rat Models of Pulmonary Arterial Hypertension Reveals Connections to Human Pathobiology and Drug Repositioning.	American Journal of Respiratory and Critical Care Medicine	2021
32900839	phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports.	Journal of Medical Genetics	2021
32539616	TET2: A Bridge Between DNA Methylation and Vascular Inflammation.	Circulation	2020
31971937	Higher prevalence of splenic artery aneurysms in hereditary hemorrhagic telangiectasia: Vascular implications and risk factors.	PLoS ONE	2020
32079640	Phenotype and outcome of pulmonary arterial hypertension patients carrying a mutation.	European Respiratory Journal	2020
31744833	Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.	Eur Respir J	2020
31661308	Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.	Am J Respir Crit Care Med	2020
32209028	Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease.	American Journal of Respiratory Cell and Molecular Biology	2020
31980491	Familial pulmonary arterial hypertension by <i>KDR</i> heterozygous loss of function.	Eur Respir J	2020
30515673	Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.	Gastric Cancer	2019
30545973	Genetics and genomics of pulmonary arterial hypertension.	Eur Respir J	2019
30303537	Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.	International Journal of Cancer	2019
30578383	Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.	European Respiratory Journal	2019
30527956	Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.	Lancet Respir Med	2019
29108819	Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease.	Journal of Heart and Lung Transplantation	2018
30354297	Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.	Circ Genom Precis Med	2018
29650961	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.	Nat Commun	2018
28165669	Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.	Pediatric Pulmonology	2017
28972005	Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.	Circulation	2017
29025196	Prenatal molecular diagnosis in RASA1-related disease.	Prenatal Diagnosis	2017
29171923	Clinical and genetic findings in children with central nervous system arteriovenous fistulas.	Annals of Neurology	2017
28087362	Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.	Lancet Respiratory Medicine,The	2017
27587546	Genetic analyses in a cohort of children with pulmonary hypertension.	European Respiratory Journal	2016
26758370	GENESIS: a French national resource to study the missing heritability of breast cancer.	BMC Cancer	2016
26838788	Resident PW1+ Progenitor Cells Participate in Vascular Remodeling During Pulmonary Arterial Hypertension.	Circulation Research	2016
27009171	Pulmonary veno-occlusive disease.	European Respiratory Journal	2016
26795434	BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.	Lancet Respir Med	2016
26699722	Genetic counselling in a national referral centre for pulmonary hypertension.	European Respiratory Journal	2016
27811071	BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.	European Respiratory Journal	2016
27634583	Molecular Genetic Diagnosis of Pulmonary Arterial Hypertension: An Increased Complexity.	Revista espanola de cardiologia (English ed.)	2016
26541523	Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease.	European Respiratory Journal	2015
25429696	Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.	Chest	2015
26056087	Somatic c.34G>T KRAS mutation: a new prescreening test forÂ MUTYH-associated polyposis?	Cancer genetics	2015
26387786	Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.	Hum Mutat	2015
26116798	Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.	Gastroenterology	2015