Publications by authors named "Matthieu Egloff"

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French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.
Céline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, Jean-Michel Dupont, Chantal Missirian, Matthieu Egloff

Clin Genet· January 2026

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Heterozygous alterations of at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Jeanne Jury, Thomas Besnard, Wallid Deb, Annick Toutain, Paul Gueguen, Matthieu Egloff

J Med Genet· October 2025

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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylène Le Meur, Matthieu Egloff

Genet Med· April 2025

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3q29 duplications: A cohort of 46 patients and a literature review.
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, Xavier Le Guillou, Gwenaël Le Guyader

Am J Med Genet A· July 2024

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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini

Eur J Hum Genet· August 2023

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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, Anna Mikhaleva, Christel Wagner, Matthieu Egloff

Genet Med· July 2023

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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont

Clin Genet· April 2023

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Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions.
Caroline Foucart, Gwenaël Le Guyader, Valérie Vequeau-Goua, Brigitte Gilbert-Dussardier, Matthieu Egloff

Cytogenet Genome Res· February 2023

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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano

Am J Med Genet A· January 2023

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Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.
Mathieu Thabault, Valentine Turpin, Alexandre Maisterrena, Mohamed Jaber, Matthieu Egloff

Int J Mol Sci· February 2022

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12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Tanguy Niclass, Gwenael Le Guyader, Claire Beneteau, Madeleine Joubert, Antonio Pizzuti, Matthieu Egloff

Am J Med Genet A· September 2020

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SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Marguerite Hureaux, Selima Ben Miled, Nicolas Chatron, Aurelie Coussement, Bettina Bessières, Matthieu Egloff

Prenat Diagn· October 2019

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.
Matthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, Valérie Cormier-Daire, Geneviève Baujat

Eur J Hum Genet· June 2018

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Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Alexandre Rouen, Léa Carlier, Solveig Heide, Matthieu Egloff, Pauline Marzin

Reprod Biomed Online· October 2017

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A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Valérie Malan, Jean-Michel Lapierre, Matthieu Egloff, Didier Goidin, Marie-Paule Beaujard

Cytogenet Genome Res· August 2016

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17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
Matthieu Egloff, Ferechte Encha-Razavi, Catherine Garel, Maryse Bonnière-Darcy, Anne-Elodie Millischer

Cytogenet Genome Res· April 2015

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Translating cell-based regenerative medicines from research to successful products: challenges and solutions.
Yves Bayon, Alain A Vertès, Vincent Ronfard, Matthieu Egloff, Sarah Snykers

Tissue Eng Part B Rev· August 2014

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