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WWOX -related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Cyril Mignot
,
Laetitia Lambert
,
Laurent Pasquier
,
Thierry Bienvenu
,
Andrée Delahaye-Duriez
et al.
Article dans une revue
hal-01686391v1
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)
Juliette Piard
,
Lara Hawkes
,
Mathieu Milh
,
Laurent Villard
,
Renato Borgatti
et al.
Article dans une revue
hal-02461440v1
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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.
Article dans une revue
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.
Article dans une revue
hal-01502135v1
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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.
Article dans une revue
hal-01668025v1
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Pauline Marzin
,
Cyril Mignot
,
Nathalie Dorison
,
Louis Claude Dufour
,
Dorothée Ville
et al.
Article dans une revue
hal-01932806v1
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Laure Asselin
,
José Rivera Alvarez
,
Solveig Heide
,
Camille Bonnet
,
Peggy Tilly
et al.
Article dans une revue
hal-03373809v1
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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.
Article dans une revue
hal-03719616v1
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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Estelle Colin
,
Yannis Duffourd
,
Emilie Tisserant
,
Raissa Relator
,
Ange-Line Bruel
et al.
Article dans une revue
hal-03886419v1
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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Martin Chevarin
,
Yannis Duffourd
,
Rebecca a Barnard
,
Sébastien Moutton
,
François Lecoquierre
et al.
Article dans une revue
hal-03619568v1
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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.
Article dans une revue
hal-01560200v1
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Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia
Paul Kuentz
,
Cyril Mignot
,
Judith St-Onge
,
Yannis Duffourd
,
Bertille Bonniaud
et al.
Article dans une revue
hal-01404272v1
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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.
Article dans une revue
hal-02538107v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Article dans une revue
hal-01920261v1
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette C Piard
,
Lara Hawkes
,
Mathieu Milh
,
Laurent Villard
,
Renato Borgatti
et al.
Article dans une revue
hal-01932796v1
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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.
Article dans une revue
hal-01919142v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen
,
Elena Gardella
,
Cathrine E Gjerulfsen
,
Allan Bayat
,
Rob P W Rouhl
et al.
Article dans une revue
hal-03881856v1
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
,
Cyril Mignot
,
Emmanuelle Blanchard
,
Paul Kuentz
,
Marie-Hélène Aubriot-Lorton
et al.
Article dans une revue
hal-03602359v1
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi Hamdan
,
Candace T. Myers
,
Patrick Cossette
,
Philippe Lemay
,
Dan Spiegelman
et al.
Article dans une revue
hal-01680255v1
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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation
Maud Jordan
,
Virginie Carmignac
,
Arthur Sorlin
,
Paul Kuentz
,
Juliette Albuisson
et al.
Article dans une revue
hal-03158801v1
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Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
Martial Mallaret
,
Mathilde Renaud
,
Claire Redin
,
Nathalie Drouot
,
Jean Muller
et al.
Article dans une revue
hal-01405178v1
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Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency
Chloé Saunier
,
Svein Isungset Støve
,
Bernt Popp
,
Bénédicte Gérard
,
Marina Blenski
et al.
Article dans une revue
hal-01314294v1
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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.
Article dans une revue
hal-03269307v1
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot
,
Laurence Faivre
,
Ghayda Mirzaa
,
Julien Thevenon
,
Ange-Line Bruel
et al.
Article dans une revue
inserm-03846561v1
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