Publications by authors named "Pascal Chambon"

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deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron, Pascal Chambon

J Med Genet· December 2025

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Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing.
Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Hélas, Stéphane Rondeau, Pascal Chambon

Mol Cytogenet· December 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Pascal Chambon

medRxiv· September 2025

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Identification and Characterization of Chromothripsis by Optical Genome Mapping.
Pascal Chambon, Mathilde Quibeuf, Anne Marie Guerrot

Methods Mol Biol· August 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Pascal Chambon

Nat Genet· June 2025

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First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.
Kevin Cassinari, Anne Claire Brehin, Ferdi Kundul, Mathieu Castelain, Sophie Patrier-Sallebert, Pascal Chambon

Chromosome Res· March 2025

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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.
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Pascal Chambon

Am J Med Genet A· April 2024

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Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
Minh-Tuan Huynh, Sophie Degre, Géraldine Joly-Helas, Cathy Bréon, Stéphanie Potel, Pascal Chambon

Am J Med Genet A· December 2022

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Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Céline Capron, Louis Januel, Gaëlle Vieville, Sylvie Jaillard, Paul Kuentz, Pascal Chambon

Andrology· November 2022

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Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.
Laetitia Miguel, Anne Rovelet-Lecrux, Pascal Chambon, Géraldine Joly-Helas, Stéphane Rousseau

Stem Cell Res· May 2022

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Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Maud Blanluet, Sandra Chantot-Bastaraud, Pascal Chambon, Kévin Cassinari, Gabriella Vera

Am J Med Genet A· October 2021

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Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Pascal Chambon

Acta Neuropathol Commun· June 2021

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[A, not so robertsonian, translocation!].
Julie Amiot, Valérie Layet, Alain Talbot, Mathieu Castelain, Thierry Frebourg, Pascal Chambon

Ann Biol Clin (Paris)· June 2021

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Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.
Kévin Cassinari, Elodie Alessandri-Gradt, Pascal Chambon, Françoise Charbonnier, Ségolène Gracias

Clin Chem· April 2021

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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Olivier Quenez, Kevin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Pascal Chambon

Eur J Hum Genet· January 2021

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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Kévin Cassinari, Anne Rovelet-Lecrux, Sandrine Tury, Olivier Quenez, Anne-Claire Richard, Pascal Chambon

Mov Disord· August 2020

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Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.
François Lecoquierre, Kévin Cassinari, Pascal Chambon, Gaël Nicolas, Sarah Malsa

Eur J Med Genet· April 2020

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Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.
Maxime Fontanilles, Florent Marguet, Philippe Ruminy, Carole Basset, Adrien Noel, Pascal Chambon

Acta Neuropathol Commun· April 2020

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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Pascal Chambon

Transl Psychiatry· February 2020

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A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Kévin Cassinari, Olivier Quenez, Géraldine Joly-Hélas, Ludivine Beaussire, Nathalie Le Meur, Pascal Chambon

Clin Chem· September 2019

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Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Bénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, Jelena Martinovic, Ferielle Louillet, Pascal Chambon

Clin Chim Acta· June 2018

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Autologous Myoblasts for the Treatment of Fecal Incontinence: Results of a Phase 2 Randomized Placebo-controlled Study (MIAS).
Olivier Boyer, Valérie Bridoux, Camille Giverne, Aurélie Bisson, Edith Koning, Pascal Chambon

Ann Surg· March 2018

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Michele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Pascal Chambon

Am J Hum Genet· June 2017

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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Anne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Pascal Chambon

Eur J Hum Genet· June 2016

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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Nicolas Gruchy, Eleonore Blondeel, Nathalie Le Meur, Géraldine Joly-Hélas, Pascal Chambon

Prenat Diagn· June 2016

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