Pascal Chambon

Rouen, France

Last Updated: 09/26/2026

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Found 31 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Identification and Characterization of Chromothripsis by Optical Genome Mapping.

Identification and Characterization of Chromothripsis by Optical Genome Mapping.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: August 30, 2025

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing.

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing.

Journal: Molecular cytogenetics

Published: June 27, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 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

First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

Published: October 02, 2024

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Journal: American journal of medical genetics. Part A

Published: July 22, 2023

Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.

Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.

Journal: American journal of medical genetics. Part A

Published: May 29, 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

Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.

Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.

Journal: Stem cell research

Published: August 02, 2021

A, not so robertsonian, translocation!

A, not so robertsonian, translocation!

Journal: Annales de biologie clinique

Published: June 23, 2021

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Last Updated: 09/26/2026