Cecile Masson

Paris, 75015, France

Last Updated: 09/26/2026

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Found 73 publications

Identification of a long-term surviving human mesenchymal stromal cell subpopulation and implications for recessive dystrophic epidermolysis bullosa treatment.

Identification of a long-term surviving human mesenchymal stromal cell subpopulation and implications for recessive dystrophic epidermolysis bullosa treatment.

Journal: Stem cell research & therapy

Published: June 01, 2026

Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.

Base editing of β0-thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies.

Journal: Science translational medicine

Published: November 26, 2025

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

Journal: The Journal of experimental medicine

Published: July 18, 2025

Clonal Lymphocyte Expansions and JAK-STAT Pathway Mutations Define a Pathogenic Continuum Driving Resistance to Gluten-Free Diet in Celiac Disease.

Clonal Lymphocyte Expansions and JAK-STAT Pathway Mutations Define a Pathogenic Continuum Driving Resistance to Gluten-Free Diet in Celiac Disease.

Journal: Gastroenterology

Published: June 13, 2025

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

Journal: EMBO molecular medicine

Published: April 09, 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

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity.

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity.

Journal: American journal of hematology

Published: January 13, 2025

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.

Journal: Nature immunology

Published: December 16, 2024

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Journal: Journal of the American Society of Nephrology : JASN

Published: December 09, 2024

Single-nucleus transcriptomics reveal the differentiation trajectories of periosteal skeletal/stem progenitor cells in bone regeneration.

Single-nucleus transcriptomics reveal the differentiation trajectories of periosteal skeletal/stem progenitor cells in bone regeneration.

Journal: eLife

Published: December 06, 2024

A sensitive assay for measuring whole-blood responses to type I IFNs.

A sensitive assay for measuring whole-blood responses to type I IFNs.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: September 23, 2024

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Journal: The Lancet. Neurology

Published: September 04, 2024

Showing 1-12 of 73

Last Updated: 09/26/2026