Patrick Revy

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

52h-index11.6kcitations147works1.92yr avg
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Research Topics

DNA Repair Mechanisms(37), Immunodeficiency and Autoimmune Disorders(28), Telomeres, Telomerase, and Senescence(25), T-cell and B-cell Immunology(24), Immune Cell Function and Interaction(18)

Publications146 total

Somatic genetic rescue in <i>ZCCHC8</i> -associated telomere biology disorders
Blood·2025Open Access
ATRX Deficiency Drives Aberrant Type I Interferon Signalling Through cGAS-Dependent Transcriptional Dysregulation
2025· 2 citedOpen Access
Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression
Blood Cancer Journal·2025Open Access
Sauvetage génétique somatique dans les maladies hématopoïétiques à hérédité mendélienne
médecine/sciences·2025Open Access
Caractérisation de l’impact moléculaire et cellulaire de variants de PARN associés à la fibrose pulmonaire
Revue des Maladies Respiratoires·2025
Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome
Journal of Clinical Investigation·2025· 4 citedOpen Access
Novel Germline <i>ZCCHC8</i> Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q
Blood·2024
Shwachman–Diamond syndrome due to biallelic <scp> <i>EFL1</i> </scp> variants with complex and fatal clinical course in early infancy
British Journal of Haematology·2024Open Access
Long‐term assessment of haematological recovery following somatic genetic rescue in a MYSM1‐deficient patient: Implications for in vivo gene therapy
British Journal of Haematology·2024· 4 citedOpen Access
Heterozygous<i>RPA2</i>variant as a novel genetic cause of telomere biology disorders
Genes & Development·2024· 2 citedOpen Access
The Immunologic Complications and Genetic Origins of Telomere Biology Disorders
Elsevier eBooks·2024
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency
Journal of Clinical Investigation·2024· 8 citedOpen Access
Physiopathology of Telomeres
2024Open Access
Physiopathologie des télomères
2024
Apollo deficiency in humans and mice
SPIRE - Sciences Po Institutional REpository·2024
DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2024· 4 citedOpen Access
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders
Human Molecular Genetics·2024· 9 cited
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase
Cells·2023· 5 citedOpen Access
Supplementary Data from Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells
2023Open Access
Data from Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells
2023Open Access
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Frequent Co-authors

Alain Fischer(19), Jean‐Pierre de Villartay(16), Anne Durandy(15), Isabelle Callebaut(10), Caroline Kannengiesser(8), Patrick Nitschké(6), Capucine Pïcard(6), Laurent Malivert(5), Kohsuke Imai(5), Raphaël Borie(5), Vincent Cottin(5), Bruno Crestani(5), Fabien Touzot(5), Christine Bôle‐Feysot(5), Frédéric Geissmann(4), Nadia Catalan(4), Nicole Brousse(4), Françoise Le Deist(4), Lidwine Wémeau-Stervinou(4), Hilario Nunès(4)