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Mathilde Nizon

As seen in: Nature, Journal of Medical Genetics (JMG), The American Journal of Human Genetics
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Articles by Mathilde Nizon

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

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By Kimberley Anderson, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif A.M. Almontashiri, Brenda J. Barry, Matthias Begemann, Sarah Burke, Benjamin Cogné, Ana S.A. Cohen, Carles de Diego Boguñá, Evan E. Eichler, Elizabeth Engle, Jill A Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Mina Grippa, Jacqueline Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney C. Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Emily Neuhaus, Mathilde Nizon, Lenka Nosková, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel Robin, Carey Ronspies, Jasmin Roohi, Jill A. Rosenfeld, Margarita Saenz, Carol Saunders, Zornitza Stark, Isabelle Thiffault, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay O. Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kari Stefansson, Agnar Helgason, Gregory Bowman, Hans Tomas Bjornsson, Eirny Tholl Thorolfsdottir, Jacquelyn F. Britton, Meral Aktas Koptagel, Farah A. Ladha, Andreina Minicucci, Sarah Thull
| The American Journal of Human Genetics Verified
Keywords CHD1 Mendelian disease sex differences neurodevelopmental disorder Introduction Traditionally, autosomal-dominant disorders have been considered to have limited sex differences, unlike X-linked disorders defined by this feature.
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

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By Mireia Coll-Tané, Theresa Brunet, Benjamin Cogné, Mathilde Nizon, Francesco Nicita, Lorena Travaglini, Antonio Novelli, Amanda Peterson, Jillian G. Buchan, Kolja Meier, Jutta Gärtner, Susann Diegmann, Véronique Pingault, Tania Attié-Bitach, Thomas Courtin, Michael Schneider, Lauren O’Grady, Katharina Steindl, Sarju G. Mehta, Christel Depienne, Boris Keren, Solveig Heide, Shane McKee, Franco Laccone, Lisa Dyer, Wendy Jones, Divya Vats, Christiane Zweier, Heinrich Sticht, Anne Gregor, Rebecca Fluri, Solene Conrad, Margie Glissmeyer, Dan Serber, Inderneel Sahai, Catherine Melver, Connie Motter, Zoey Trueblood Wilson, Kristina Huß
| The American Journal of Human Genetics Verified
Keywords neurodevelopmental disorder Drosophila melanogaster rare disease disease gene discovery Introduction LIM domain binding gene 1 (LDB1; also known as NLI and CLIM2) (MIM: 603451) encodes a ubiquitously expressed co-regulator of transcription.1 Studies in mice have shown its importance in neurogenesis, including development of the fore-,1 mid- and hindbrain.2 Additionally, it plays an essential role in the differentiation of corticospinal motoneurons and interneurons,3 axon guidance,4...
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DNA methylation signature and clinical delineation of PACS1 -related disorder in 24 unreported individuals

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By Quentin Sabbagh, Sadegheh Haghshenas, Jean-Luc Alessandri, Mads Bak, Allan Bayat, Alfredo Brusco, Tiffany Busa, Paige Calvert, Valérie Cormier-Daire, Yannis Duffourd, Anne Guimier, Laetitia Lambert, Gaetan Lesca, Nicolas Chatron, Michael Levy, Diego Lopergolo, Henri Margot, Haley McConkey, Pauline Monin, Godeliève Morel, Sophie Naudion, Mathilde Nizon, Sylvie Odent, Audrey Putoux, Marlene Rio, Massimiliano Rossi, Nathalie Ruiz-Pallares, Stefano Pagano, Filippo M Santorelli, Clément Sauvestre, Jennifer C. Schymick, Victoria Mok Siu, Matthew L. Tedder, Frédéric Tran Mau-Them, Zeynep Tümer, Irene Valenzuela, Julien Van Gils, Marjolaine Willems, Aron Kirchhoff, Peter Krawitz, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève, Camille Cenni, Mouna Barat-Houari, Anaïs Calaya, Christine Coubes, Giovanni B. Ferrero, Damien Haye, Tina Duelund Hjortshøj, Carolyn Lauzon-Young, Lucile Pinson, Linda Pons, Lucie Rouaux, Flavien Rouxel, Elodie Sanchez, Marta Spodenkiewicz, Mylène Tharreau, Janneke H. M. Schuurs-Hoeijmakers
| Nature Verified
Abstract PACS1-related disorder (PACS1-RD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant neurodevelopmental disorder predominantly caused by the recurrent de novo c.607 C > T p.(Arg203Trp) gain-of-function variant. Although core clinical features have been delineated, systematic data on developmental milestones, growth parameters, and clinical variability remain limited.
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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

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By Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Marion Lesieur-Sebellin, Solveig Heide, Chloé Quélin, François Lecoquierre, Mathilde Nizon, Bertrand Isidor, Thomas Besnard, Benjamin Cogné, Xenia Latypova, Jonathan Levy, Pascal Joset, Katharina Steindl, María Palomares-Bralo, Fernando Santos-Simarro, Mary Thomas, Amina Abubakar, Sally Lynch, Amelie J. Müller, Tobias B. Haack, Martin Zenker, Michael Parker, Michael Spiller, Renarta Crookes, Muriel Holder-Espinasse, Allan Bayat, Rikke S Møller, Tomasz Stanislaw Mieszczanek, Julien Buratti, Pierre Marijon, Ryan Gavin Verified, Carlos Cid Parras, Bassem A. Hassan, Cyril Mignot, Laila El Khattabi, Elodie Lejeune, Emma Clossick, Sabir Ataf
| The American Journal of Human Genetics Verified
Keywords RNA processing spliceosome assembly gene regulation genetic variants brain development neurodevelopment SF1 splicing factor intelle Get full text access Log in, subscribe or purchase for full access. References 1. Kochinke, K. ∙ Zweier, C. ∙ Nijhof, B. ... Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules Am. J. Hum. Genet. 2016; 98:149-164 2. Chen, Y. ∙ Dawes, R. ∙ Kim, H.C. ...
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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

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By Claudie Gabillard-Lefort, Caroline Martinez, Naïg Gueguen, Louis Legoff, Anne Guimier, Sophie Rondeau, Giulia Barcia, Christine Barnerias, Benjamin Cogné, Thomas Besnard, Jessica Douglas, Olaf A Bodamer, Annalisa Vetro, Renzo Guerrini, Simona Balestrini, Valerio Conti, Laura Siri, Arnaud Chevrollier, Estelle Colin, Vincent Procaccio, Guy Lenaers, Salim Khiati, Mathilde Nizon, Olivier R. Baris, Valérie Desquiret-Dumas, Méline Wery, Elsa Lorino, Céline Bris, Delphine Prunier-Mirebeau
| The American Journal of Human Genetics Verified
Keywords TM2D3 neurodevelopmental disorder endoplasmic reticulum mitochondria ER stress mitochondrial dynamics microcephaly extracellular matrix Get full text access Log in, subscribe or purchase for full access. References 1. Parenti, I. ∙ Rabaneda, L.G. ∙ Schoen, H. ... Neurodevelopmental Disorders: From Genetics to Functional Pathways Trends Neurosci. 2020; 43:608-621 2. Mellone, S. ∙ Puricelli, C. ∙ Vurchio, D. ...
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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features - European Journal of Human Genetics

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By Christel Thauvin-Robinet, Caroline A. Racine, Sophie Nambot, Ange-Line Bruel, Caroline Rooryck, Mélanie Fradin, Marie Vincent, Gabriella Vera, Florence Petit, Mathilde Nizon, Médéric Jeanne, Pascale Saugier-Veber, Pierre Blanc, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Audrey Putoux, Frédéric Tran-Mau-Them
| Nature Verified
Abstract In 30–40% of fetuses with structural defects, the causal variant remains undiagnosed after karyotype, chromosomal microarray, and exome sequencing. This study presents the results of a reanalysis of unsolved prenatal ES (pES) cases and investigates how postnatal/postmortem phenotyping contributes to identifying relevant variants. pES data was prospectively reanalyzed for unsolved cases enrolled in the AnDDI-Prénatome cohort study.
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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature - European Journal of Human Genetics

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By Clara HOUDAYER, Kathleen Rooney, Giulia Barcia, Anais Begemann, Marie Bournez, Ange-Line Bruel, Benjamin Cogné, Valérie Cormier-Daire, Tanguy Demaret, Anne-Sophie Denommé-Pichon, Christèle Dubourg, Mélanie Fradin, David Geneviève, Karen Gripp, Louis Legoff, Bryce A. Mendelsohn, Mathilde Nizon, Laurent Pasquier, Christophe Philippe, Anita Rauch, Arthur Sorlin, Frédéric Tran Mau-Them, Marie Vincent, Sandra Whalen, Christel Thauvin-Robinet, Bekim Sadikovic, Antonio Vitobello, Aicha Boughalem, Matt Tedder
| Nature Verified
Abstract Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of ARID2-RD, providing clinicians with additional data for better care and aid in the future diagnosis of this condition.
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Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

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By Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon
| Journal of Medical Genetics (JMG)
Abstract Background Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs decrease, genome sequencing (GS) is gradually replacing ES for genome-wide molecular testing. As many variants detected by GS only are in deep intronic or non-coding regions, the interpretation of their impact may be difficult.
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders - European Journal of Human Genetics

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By Thomas Husson, Gaël Nicolas, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Benjamin Cogné, Anne-Sophie Denommé-Pichon, Christel Depienne, Salima El Chehadeh, David Geneviève, Brigitte Gilbert-Dussardier, Gaetan Lesca, Jonathan Levy, Sophie Nambot, Mathilde Nizon, Laurent Pasquier, Amélie Piton, Marlene Rio, Massimiliano Rossi, Frédéric Tran Mau-Them, Julien Van Gils, Marie Vincent, Nicolas Chassaing, Christèle Dubourg, Alinoë Lavillaureix, Godeliève Morel, Luisa Marsili, Laurine Perrin, Pascale Saugier-Veber, Aurélien Trimouille, Gabriella Vera
| Nature Verified
Abstract Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities of most published episignatures have not been independently investigated yet, which is a prerequisite for an informed and rigorous use in a diagnostic setting.
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Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

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By Bertrand Isidor, Sandra Mercier, Kevin Riquin, Mathilde Nizon
| Journal of Medical Genetics (JMG)
http://orcid.org/0000-0003-1774-0286Kevin Riquin1, Bertrand Isidor1,2, Sandra Mercier1,2, Mathilde Nizon1,2, Estelle Colin3,4, Dominique Bonneau3,4, Laurent Pasquier5, Sylvie Odent5,6, http://orcid.org/0000-0001-9350-8177Xavier Maximin Le Guillou Horn7,8, Gwenaël Le Guyader7, http://orcid.org/0000-0002-5999-5300Annick Toutain9,10, Vincent Meyer11, Jean-François Deleuze11, Olivier Pichon2, Martine Doco-Fenzy1,2, Stéphane Bézieau1,2, http://orcid.org/0000-0002-5503-6292Benjamin Cogné1,2...
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