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Biology and Biochemistry

D-Index
53
Citations
9057
World Ranking
16271
National Ranking
677

Overview

Rémi Favier is affiliated with the University of Paris-Saclay in France and conducts research primarily in the field of medicine. Their work has a strong focus on hematology, with significant contributions also made to genetics, immunology, critical care and intensive care medicine, and surgery.

The scientist's research topics cover a range of areas related to blood disorders and treatments, including platelet disorders and treatments, acute myeloid leukemia research, myeloproliferative neoplasms diagnosis and treatment, trauma, hemostasis, coagulopathy and resuscitation, immunodeficiency and autoimmune disorders, and aspects of maternal and fetal healthcare.

Rémi Favier's recent publications include:

  • Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy (2020, Haematologica)
  • Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome (2020, Blood)
  • The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy (2021, Haematologica)
  • Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms (2021, Blood)
  • GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements (2022, Nature Communications)

The scientist has frequently published in venues such as Haematologica and Blood, each with four publications, followed by bioRxiv (Cold Spring Harbor Laboratory) with three publications. Other publication venues include Nature Communications and Blood Advances.

Rémi Favier's frequent coauthors include Hana Raslová, Taco W. Kuijpers, William Vainchenker, Isabelle Plo, and Kate Downes.

Best Publications

  • 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;Cornelis A. Albers;Cornelis A. Albers;Dirk S. Paul;Harald Schulze;Kathleen Freson

  • Fli-1 Is Required for Murine Vascular and Megakaryocytic Development and Is Hemizygously Deleted in Patients with Thrombocytopenia

    Adam Hart;Fabrice Melet;Paul Grossfeld;Kenneth Chien

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

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • The 11q terminal deletion disorder: a prospective study of 110 cases.

    Paul D. Grossfeld;Teresa Mattina;Zona Lai;Remi Favier

  • Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

    Cornelis A Albers;Ana Cvejic;Ana Cvejic;Rémi Favier;Evelien E Bouwmans

  • Transcriptional diversity during lineage commitment of human blood progenitors

    Lu Chen;Lu Chen;Lu Chen;Myrto Kostadima;Myrto Kostadima;Myrto Kostadima;Joost H. A. Martens;Giovanni Canu;Giovanni Canu

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation.

    Elmina Mammadova-Bach;Véronique Ollivier;Véronique Ollivier;Stéphane Loyau;Stéphane Loyau;Mathieu Schaff

  • Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

    Dominique Bluteau;Alessandra Balduini;Nathalie Balayn;Nathalie Balayn;Manuela Currao

  • FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/ Jacobsen thrombopenia

    Hana Raslova;Emiko Komura;Jean Pierre Le Couédic;Frederic Larbret

  • ANKRD26-related thrombocytopenia and myeloid malignancies

    Patrizia Noris;Remi Favier;Remi Favier;Marie Christine Alessi;Amy E. Geddis

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

    Ilenia Simeoni;Ilenia Simeoni;Jonathan C. Stephens;Jonathan C. Stephens;Fengyuan Hu;Fengyuan Hu;Sri V V Deevi;Sri V V Deevi

  • Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.

    Xénia Cabagnols;Xénia Cabagnols;Fabrizia Favale;Fabrizia Favale;Florence Pasquier;Florence Pasquier;Kahia Messaoudi;Kahia Messaoudi

  • Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases.

    Remi Favier;Katayoun Jondeau;Patrice Boutard;Paul Grossfeld

  • Spectrum of the mutations in bernard-soulier syndrome

    Anna Savoia;Shinji Kunishima;Daniela De Rocco;Barbara Zieger

  • A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23 [see comments]

    J Breton-Gorius;R Favier;J Guichard;D Cherif

  • Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

    Pierre Hirsch;Yanyan Zhang;Yanyan Zhang;Ruoping Tang;Virginie Joulin;Virginie Joulin

  • A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

    Simon Stritt;Paquita Nurden;Ernest Turro;Daniel Greene;Daniel Greene

  • 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;Ernest Turro;Daniel Greene;Daniel Greene;Claire Lentaigne;Claire Lentaigne

  • Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression.

    Dominique Bluteau;Dominique Bluteau;Dominique Bluteau;Ana C. Glembotsky;Anna Raimbault;Anna Raimbault;Anna Raimbault;Nathalie Balayn;Nathalie Balayn;Nathalie Balayn

Frequent Co-Authors

Willem H. Ouwehand
Willem H. Ouwehand University of Cambridge
Najet Debili
Najet Debili Institut Gustave Roussy
William Vainchenker
William Vainchenker Institut Gustave Roussy
Isabelle Plo
Isabelle Plo University of Paris-Saclay
Jonathan Stephens
Jonathan Stephens University of Cambridge
Michael Laffan
Michael Laffan Imperial College London
Marie-Christine Alessi
Marie-Christine Alessi Aix-Marseille University
Alan T. Nurden
Alan T. Nurden Centre national de la recherche scientifique, CNRS
Eric Solary
Eric Solary Institut Gustave Roussy

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