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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
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Sandra Chantot-Bastaraud
,
Boris Keren
,
Madeleine D Harbison
,
Salah Azzi
et al.
Journal articles
hal-02006389v1
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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.
Journal articles
hal-02417518v1
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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.
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.
Journal articles
hal-02347889v1
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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.
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.
Journal articles
hal-01738521v1
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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.
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.
Journal articles
hal-01502133v1
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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.
Journal articles
hal-02556784v1
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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.
Journal articles
istex
hal-00966219v1
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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 articles
hal-03244899v1
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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.
Journal articles
hal-01932799v1
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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.
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.
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.
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.
Journal articles
hal-01919142v1
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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.
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.
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.
Journal articles
hal-02566769v1
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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.
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.
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.
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.
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.
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.
Journal articles
hal-01870357v1
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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 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.
Journal articles
hal-03269307v1
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