Patrick Revy

Paris, France

Last Updated: 09/26/2026

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Found 71 publications

Pathophysiology of pulmonary fibrosis associated with monogenic defects of telomere homeostasis

Pathophysiology of pulmonary fibrosis associated with monogenic defects of telomere homeostasis

Journal: Revue des maladies respiratoires

Published: August 10, 2026

Genetic aspects of telomere biology disorders.

Genetic aspects of telomere biology disorders.

Journal: Seminars in hematology

Published: February 05, 2026

Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.

Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.

Journal: Molecular medicine (Cambridge, Mass.)

Published: December 22, 2025

Somatic genetic rescue in mendelian hematopoietic diseases: from cellular darwinism to natural gene therapy

Somatic genetic rescue in mendelian hematopoietic diseases: from cellular darwinism to natural gene therapy

Journal: Medecine sciences : M/S

Published: December 12, 2025

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.

Journal: Blood

Published: August 27, 2025

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.

Journal: Blood

Published: August 27, 2025

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.

Journal: Blood cancer journal

Published: May 24, 2025

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.

Journal: Journal of human immunity

Published: April 08, 2025

Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.

Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.

Journal: British journal of haematology

Published: July 18, 2024

Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.

Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.

Journal: British journal of haematology

Published: June 25, 2024

Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders.

Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders.

Journal: Genes & development

Published: June 18, 2024

Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.

Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.

Journal: The Journal of clinical investigation

Published: March 08, 2024

Showing 1-12 of 71

Last Updated: 09/26/2026