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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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Stratégie d'exploration d'une déficience intellectuelle inexpliquée
Alain Verloes
,
Delphine Heron
,
T, Billette de Villemeur
,
Alexandra Afenjar
,
N. Bahi-Buisson
et al.
Archives de Pédiatrie, 2012, 19 (2), pp.194-207
Journal articles
hal-00916006v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
Claire Bar
,
Delphine Breuillard
,
Mathieu Kuchenbuch
,
Mélanie Jennesson
,
Gwenaël Le Guyader
et al.
Journal articles
hal-03485808v1
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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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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin
,
Cyril Mignot
,
Pascale de Lonlay
,
Bénédicte Héron
,
Alice Masurel
et al.
Journal articles
hal-01112338v1
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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
Marie Hully
,
Tommaso Lo Barco
,
Anna Kaminska
,
Giulia Barcia
,
Claude Cances
et al.
Journal articles
hal-03127056v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
,
Michelle Morrow
,
Catherine Schramm
,
Francisca Millan Zamora
et al.
Journal articles
hal-03820933v1
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Gillian I. Rice
,
Sehoon Park
,
Francesco Gavazzi
,
Laura Adang
,
Loveline Ayuk
et al.
Journal articles
hal-02996412v1
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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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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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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
Diane Doummar
,
Cyril Mignot
,
Emmanuelle Apartis
,
Laurent Villard
,
Diana Rodriguez
et al.
Journal articles
istex
hal-01664305v1
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Searching for secondary findings: considering actionability and preserving the right not to know
Bertrand Isidor
,
Sophie Julia
,
Pascale Saugier-Veber
,
Paul-Loup Weil-Dubuc
,
Stephane Bezieau
et al.
Journal articles
hal-02904506v1
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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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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.
Journal articles
istex
hal-01469066v1
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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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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Journal articles
hal-01920261v1
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Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56
Anne Legrand
,
Claire Pujol
,
Christelle M Durand
,
Aurélie Mesnil
,
Isabelle Rubera
et al.
Journal articles
pasteur-03099934v1
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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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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Cyril Mignot
,
Emmanuelle Apartis
,
Alexandra Durr
,
Charles Marques Lourenço
,
Perrine Charles
et al.
Journal articles
inserm-00907850v1
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent
,
David Geneviève
,
Agnès Ostertag
,
Sandrine Marlin
,
Didier Lacombe
et al.
Journal articles
hal-01134364v1
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Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures
Julien Denis
,
Nathalie Villeneuve
,
Pierre Cacciagli
,
Cecile Mignon-Ravix
,
Caroline Lacoste
et al.
Journal articles
hal-02417625v1
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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
Marie Hully
,
Tommaso Lo Barco
,
Anna Kaminska
,
Giulia Barcia
,
Claude Cances
et al.
Journal articles
hal-03967477v1
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Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.
Cyril Mignot
,
Cécile Delarasse
,
Séverine Escaich
,
Bruno Della Gaspera
,
Eric Noé
et al.
Journal articles
istex
hal-00306401v1
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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Jérôme Stirnemann
,
Marie Vigan
,
Dalil Hamroun
,
Djazia Heraoui
,
Linda Rossi-Semerano
et al.
Journal articles
inserm-00767459v1
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A cytometric study of the red blood cells in gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis
Daniela Bratosin
,
J Pierre Tissier
,
Hélène Lapillonne
,
Olivier Hermine
,
Thierry Billette de Villemeur
et al.
Journal articles
hal-02646773v1
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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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