Bruno Copin

Paris, France

Last Updated: 09/26/2026

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Found 29 publications

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Journal: Human genomics

Published: March 21, 2024

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Journal: Journal of medical genetics

Published: October 19, 2023

Germline RUNX1 variants in paediatric patients in a French specialised centre.

Germline RUNX1 variants in paediatric patients in a French specialised centre.

Journal: EJHaem

Published: September 17, 2022

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

Journal: eLife

Published: June 22, 2022

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: March 10, 2022

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Journal: Rheumatology (Oxford, England)

Published: January 13, 2022

RNF213-associated urticarial lesions with hypercytokinemia.

RNF213-associated urticarial lesions with hypercytokinemia.

Journal: The Journal of allergy and clinical immunology

Published: November 16, 2021

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Journal: The European respiratory journal

Published: April 26, 2020

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Journal: ACR open rheumatology

Published: November 29, 2019

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

Journal: American journal of human genetics

Published: October 11, 2019

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Journal: The Journal of allergy and clinical immunology

Published: September 24, 2019

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Journal: Journal of medical genetics

Published: July 11, 2019

Showing 1-12 of 29

Last Updated: 09/26/2026