Gwenael Nadeau

Grenoble, France

Last Updated: 09/26/2026

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Found 14 publications

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Journal: Circulation. Genomic and precision medicine

Published: December 07, 2023

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Journal: Molecular diagnosis & therapy

Published: June 14, 2022

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Journal: Andrology

Published: May 04, 2022

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Journal: American journal of medical genetics. Part A

Published: April 30, 2021

A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.

A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.

Journal: Bone reports

Published: February 15, 2021

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.

Journal: Orphanet journal of rare diseases

Published: December 03, 2019

Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.

Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.

Journal: American journal of hematology

Published: May 07, 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal: Journal of medical genetics

Published: October 02, 2018

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Journal: European journal of human genetics : EJHG

Published: March 28, 2017

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Journal: American journal of medical genetics. Part A

Published: May 23, 2016

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Last Updated: 09/26/2026