Publications by authors named "Vincent Marie"

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Samuel M Bradbrook, Gail Graham, Melissa T Carter, Maria Kibaek, Christina Fagerberg, Marie Vincent, Marie-Noëlle Bonnet-Dupeyron Valence

Am J Med Genet A· January 2026

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A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Delphine Héron, Anna Gerasimenko, Lisa Frugère, Jade Ducourneau, Capucine Rossi, Marie Vincent, Jean-Marie Jouannic

Brain· December 2025

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Marie Vincent

Cell· December 2025

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, Marie Bournez, Marie Vincent

Eur J Hum Genet· November 2025

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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich

Am J Med Genet A· November 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Anne-Marie Guerrot, Marie Vincent, Marie-Laure Humbert-Asensio

Genome Med· October 2025

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The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.
Charlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Marie-Line Jacquemont, Anne-Marie Guerrot, Marie Vincent

Prenat Diagn· July 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, Marie Faoucher, Marie-Noelle Bonnet-Dupeyron, Anne-Marie Guerrot, Marie Vincent

Nat Genet· June 2025

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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, Julian Delanne, Caroline Racine, Anne-Marie Guerrot, Marie Vincent

Eur J Hum Genet· May 2025

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Intracranial hypertension in a patient with Hutchinson-Gilford progeria syndrome.
Léa Bonneau, Maïlys Rupin-Mas, Magali Descamps, Marie Vincent, Bénédicte Romefort

Arch Pediatr· April 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Marie Vincent

J Med Genet· March 2025

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A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.
Rana El Masri, Alberto Iannuzzo, Paul Kuentz, Rachida Tacine, Marie Vincent

Nat Commun· February 2025

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Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Jeanne Jury, Jean-François Benoist, Madeleine Joubert, Chloé Quelin, Thomas Besnard, Marie Vincent

Clin Genet· December 2024

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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Mariel Alders, Marie Vincent, Anne-Marie Guerrot

Ann Neurol· September 2024

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Jean-Marie Ravel, Marie Vincent, Marie Faoucher

J Med Genet· August 2024

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Marie Vincent

Am J Hum Genet· August 2024

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Marie Vincent

medRxiv· August 2024

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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Marie Vincent

Am J Med Genet A· July 2024

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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the Gene: A Clinical Report.
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Marie Vincent

Neurol Clin Pract· June 2024

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Marie-Noëlle Bonnet-Dupeyron, Marie Bournez, Anne-Marie Guerrot, Marie Vincent

Eur J Hum Genet· February 2024

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Growth charts in DYRK1A syndrome.
Pierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Anne-Marie Guerrot, Marie Vincent

Am J Med Genet A· January 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Marie Vincent

J Clin Invest· January 2024

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, , Marie Vincent

Mol Genet Genomic Med· January 2024

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Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Lottie D Morison, Olivia van Reyk, Elana Forbes, Flavien Rouxel, Laurence Faivre, Marie Vincent, Marie-Line Jacquemont

Eur J Hum Genet· December 2023

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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Laurence Faivre, Jean-Charles Crépin, Manon Réda, Sophie Nambot, Virginie Carmignac, Marie-Agnès Collonge-Rame, Marie-Line Jacquemont, Marie Vincent

Clin Genet· November 2023

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