Dominique Coignard-Martin

Le Mans, France

Last Updated: 09/26/2026

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Found 36 publications

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Journal: American journal of human genetics

Published: May 17, 2023

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics

Published: August 08, 2022

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal: Journal of medical genetics

Published: November 16, 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Journal: American journal of human genetics

Published: March 13, 2020

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Journal: Clinical endocrinology

Published: December 16, 2019

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

Shwachman-Diamond syndrome: a case report

Shwachman-Diamond syndrome: a case report

Journal: Annales de biologie clinique

Published: August 07, 2018

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Journal: Neuron

Published: May 10, 2018

Showing 1-12 of 36

Last Updated: 09/26/2026