Publications by authors named "Mathilde Nizon"

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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, Mathilde Nizon

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, Mathilde Nizon

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, Mathilde Nizon

Eur J Hum Genet· November 2025

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Mathilde Nizon

J Med Genet· November 2025

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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Mathilde Nizon

Am J Hum Genet· November 2025

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A mutational hotspot in associated with impaired heterodimer formation and severe brain developmental disorders.
Gabriele Di Pasquale, Jacopo Colella, Carola P Di Cataldo, Miguel A Soler, Sara Fortuna, Mathilde Nizon

Front Cell Neurosci· October 2025

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PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.
Camille Level, Christel Thauvin-Robinet, Christine Binquet, Yannis Duffourd, Emeline Davoine, Mathilde Nizon

BMJ Open· October 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, Mathilde Nizon

medRxiv· September 2025

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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Mathilde Nizon

Brain· August 2025

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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz, Mathilde Nizon

Genet Med· July 2025

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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Claudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, Valérie Desquiret-Dumas, Méline Wery, Mathilde Nizon

Am J Hum Genet· 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, Mathilde Nizon

Nat Genet· June 2025

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Mathilde Nizon

Orphanet J Rare Dis· June 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Mathilde Nizon

Eur J Hum Genet· May 2025

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Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Jessica Kachmar, Hassan Saei, Vincent Morinière, Laurence Heidet, Bertrand Knebelmann, Mathilde Nizon

Am J Kidney Dis· May 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, Mathilde Nizon

Eur J Hum Genet· May 2025

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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Mathilde Nizon

medRxiv· May 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Mathilde Nizon

Genet Med· April 2025

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Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.
Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, Leïla Ghesh, Pierre-Emmanuel Séguéla, Mathilde Nizon

Prenat Diagn· 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, Mathilde Nizon

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, Mathilde Nizon

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, Mathilde Nizon

medRxiv· August 2024

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Wallid Deb, Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Mathilde Nizon

Am J Hum Genet· July 2024

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
Servane de Masfrand, Benjamin Cogné, Mathilde Nizon, Wallid Deb, Alice Goldenberg

Eur J Med Genet· June 2024

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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Mathilde Nizon

Hum Genet· March 2024

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