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authFullName_s : Annick Toutain
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1
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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Marlène Rio , Valérie Malan , Sarah Boissel , Annick Toutain , Ghislaine Royer , et al.
European Journal of Human Genetics, 2010, 18 (3), pp.285-290. ⟨10.1038/ejhg.2009.159⟩
Journal articles hal-02044698v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Nadège Bondurand , Florence Dastot-Le Moal , Laure Stanchina , Nathalie Collot , Viviane Baral , et al.
American Journal of Human Genetics, 2007, 81 (6), pp.1169-85. ⟨10.1086/522090⟩
Journal articles inserm-00196715v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Aurore Curie , Tatjana Nazir , Amandine Brun , Yves Paulignan , Anne Reboul , et al.
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Journal articles hal-01020483v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova , et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Sylvie Jaillard , Séverine Drunat , Claude Bendavid , Azzedine Aboura , Amandine Etcheverry , et al.
European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩
Journal articles istex inserm-00434932v1
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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Christèle Dubourg , Damien Sanlaville , Martine Doco-Fenzy , Cédric Le Caignec , Chantal Missirian , et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Laïla El Khattabi , Sylvie Jaillard , Joris Andrieux , Laurent Pasquier , Laurence Perrin , et al.
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
Journal articles istex hal-01165441v1
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lisa Lenaerts , Sara Reynhout , Iris Verbinnen , Frederic Laumonnier , Annick Toutain , et al.
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Journal articles inserm-03273405v1
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne , Hélène Demory , Aubin Moutal , Marie-Laure Vuillaume , Sophie Blesson , et al.
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
Journal articles hal-03221134v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry , Thomas Besnard , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin , et al.
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
Journal articles hal-01478814v1
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Quality of life and mental health of adolescents and adults with Silver-Russell syndrome

Mélissa Burgevin , Agnès Lacroix , Karine Bourdet , Régis Coutant , Bruno Donadille , et al.
European Journal of Medical Genetics, 2022, 65 (5), pp.104482. ⟨10.1016/j.ejmg.2022.104482⟩
Journal articles hal-03629998v1

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide , Boris Keren , Thierry Billette de Villemeur , Sandra Chantot-Bastaraud , Christel Depienne , et al.
The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Journal articles hal-01560200v1
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Gaelle Thierry , Claire Bénéteau , Olivier Pichon , Elisabeth Flori , Bertrand Isidor , et al.
American Journal of Medical Genetics Part A, 2012, 158A (7), pp.1633-40. ⟨10.1002/ajmg.a.35423⟩
Journal articles inserm-00706725v1
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New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Audric Cologne , Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Amandine Campan-Fournier , et al.
RNA, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩
Journal articles hal-02305628v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1

Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11

Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt , Tiffany Busa , et al.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Celine Bordet , Sandrine Brice , Carole Maupain , Estelle Gandjbakhch , Bertrand Isidor , et al.
Journal of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal articles hal-02882035v1

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Suzanna Frints , Aysegul Ozanturk , Germán Rodriguez Criado , Ute Grasshoff , Bas de Hoon , et al.
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩
Journal articles hal-03677837v1
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A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

Isabelle Pénisson-Besnier , Nicole Monnier , Annick Toutain , Frédéric Dubas , Nigel G. Laing
Neuromuscular Disorders, 2007, 17 (4), pp.330-7. ⟨10.1016/j.nmd.2007.01.017⟩
Journal articles inserm-00381952v1
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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain , et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium

Vincent Des Portes , Cherif Beldjord , Jamel Chelly , Ben Hamel , Hannie Kremer , et al.
American Journal of Medical Genetics, 1999, 85 (3), pp.263-265. ⟨10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>;2-0⟩
Journal articles istex hal-04056950v1
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon , Mathieu Milh , François Feillet , Judith St-Onge , Yannis Duffourd , et al.
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Journal articles hal-01668025v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt , et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon , et al.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Journal articles hal-03719616v1

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Marie-Laure Vuillaume , Marie-Pierre Moizard , Sylvie Rossignol , Edouard Cottereau , Sandrine Vonwill , et al.
Human Mutation, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩
Journal articles hal-02393015v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman , Anne-Claire Mazery , Antoine Visier , Clarisse Baumann , Dominique Lachesnais , et al.
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Journal articles hal-01560204v1
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Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Judith Halewa , Sylviane Marouillat , Manon Dixneuf , Rose‐anne Thépault , Dévina C Ung , et al.
Human Mutation, 2021, 42 (7), pp.848 - 861. ⟨10.1002/humu.24208⟩
Journal articles inserm-03273379v1

The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.

Marie Legendre , Xavier Darde , Marion Ferreira , Sandra Chantot-Bastaraud , Marion Campana , et al.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders, 2022, 39 (2), pp.e2022019. ⟨10.36141/svdld.v39i2.12730⟩
Journal articles inserm-03837029v1