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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Solveig Heide , Sandra Chantot-Bastaraud , Boris Keren , Madeleine D Harbison , Salah Azzi et al.
Journal of Medical Genetics, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩
Journal articles hal-02006389v1

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’donnell-Luria , Lynn Pais , Víctor Faundes , Jordan Wood , Abigail Sveden et al.
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Journal articles hal-02417518v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1
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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

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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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

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref-Eshghi , Jennifer Kerkhof , Victor Pedro , Mouna Barat-Houari , Nathalie Ruiz-Pallares et al.
American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩
Journal articles hal-02538107v1
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh , Delphine Héron , Timothy J. Edwards , Angélique Quartier , Charles Galea et al.
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Journal articles hal-01502133v1

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Andrea Accogli , Sara Calabretta , Judith St-Onge , Nassima Boudrahem-Addour , Alexandre Dionne-Laporte et al.
American Journal of Human Genetics, 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩
Journal articles hal-02556784v1

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

Stéphanie Maupetit-Méhouas , Salah Azzi , Virginie Steunou , Nathalie Sakakini , Caroline Silve et al.
Human Mutation, 2013, 34 (8), pp.1172-80. ⟨10.1002/humu.22352⟩
Journal articles istex hal-00966219v1

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria Bramswig , Aida Bertoli-Avella , Beate Albrecht , Aida Al Aqeel , Amal Alhashem et al.
Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩
Journal articles hal-01932799v1

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

Caroline Nava , Johanna Rupp , Jean-Paul Boissel , Cyril Mignot , Agnès Rastetter et al.
Amino Acids, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Journal articles hal-01191525v1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Sébastien Jacquemont , Alexandre Reymond , Flore Zufferey , Louise Harewood , Robin G. Walters et al.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Journal articles inserm-00619240v1
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Increased diagnostic yield in complex dystonia through exome sequencing

Thomas Wirth , Christine Tranchant , Nathalie Drouot , Boris Keren , Cyril Mignot et al.
Parkinsonism & Related Disorders, 2020, 74, pp.50 - 56. ⟨10.1016/j.parkreldis.2020.04.003⟩
Journal articles hal-03490916v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly a.F. Stessman , Marjolein h. Willemsen , Michael Fenckova , Osnat Penn , Alexander Hoischen et al.
American Journal of Human Genetics, 2016, 98 (3), pp.541 - 552. ⟨10.1016/j.ajhg.2016.02.004⟩
Journal articles hal-01405534v1
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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Flavien Rouxel , Kevin Yauy , Guilaine Boursier , Vincent Gatinois , Mouna Barat-Houari et al.
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00994-8⟩
Journal articles hal-03640392v1
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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne , Delphine Bouteiller , Boris Keren , Emmanuel Cheuret , Karine Poirier et al.
PLoS Genetics, 2009, 5 (2), pp.e1000381. ⟨10.1371/journal.pgen.1000381⟩
Journal articles hal-02566769v1

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Anne Legrand , Laurence Cornez , Wafa Samkari , Michael Mazzella , Annabelle Venisse et al.
Genetics in Medicine, 2017, 19 (8), pp.909 - 917. ⟨10.1038/gim.2016.213⟩
Journal articles hal-01879799v1
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider et al.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Journal articles hal-02302579v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson et al.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Journal articles hal-02959318v1
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava , Carine Dalle , Agnès Rastetter , Pasquale Striano , Carolien de Kovel et al.
Nature Genetics, 2014, 46 (6), pp.640-645. ⟨10.1038/ng.2952⟩
Journal articles hal-01710614v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier et al.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Journal articles hal-01237103v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin , Borja Rodríguez-Herreros , Jared Nielsen , Clara Moreau , Claudia Modenato et al.
Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Journal articles hal-01870357v1

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

Debby M E I Hellebrekers , Tom E J Theunissen , Irenaeus F M de Coo , Hubert J M Smeets , Thuy-Linh Le et al.
Journal of Clinical Investigation, 2021, 131 (6), ⟨10.1172/jci145837⟩
Journal articles hal-03173467v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jeremie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria del Mar Muniz Moreno et al.
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Journal articles hal-03269307v1