Christine Bole

Paris, France

Last Updated: 09/26/2026

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Found 28 publications

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype.

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype.

Journal: The Journal of experimental medicine

Published: January 10, 2026

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.

Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.

Journal: HGG advances

Published: October 10, 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

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

Journal: European journal of immunology

Published: April 28, 2025

Expanding PIGM-related disorders to coding mutations.

Expanding PIGM-related disorders to coding mutations.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: August 30, 2024

Late Neolithic collective burial reveals admixture dynamics during the third millennium BCE and the shaping of the European genome.

Late Neolithic collective burial reveals admixture dynamics during the third millennium BCE and the shaping of the European genome.

Journal: Science advances

Published: June 19, 2024

A 22q13.1 duplication in mosaicism including SOX10.

A 22q13.1 duplication in mosaicism including SOX10.

Journal: American journal of medical genetics. Part A

Published: May 24, 2023

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Journal: Acta neuropathologica communications

Published: December 17, 2022

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

Journal: Human reproduction (Oxford, England)

Published: December 04, 2022

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

Journal: Human reproduction (Oxford, England)

Published: June 23, 2022

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Journal: Journal of clinical immunology

Published: September 28, 2021

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.

Journal: Birth defects research

Published: August 28, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026