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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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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Quentin Thomas
,
Antonio Vitobello
,
Frederic Tran Mau-Them
,
Yannis Duffourd
,
Agnès Fromont
et al.
Article dans une revue
hal-03266264v1
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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Frederic Tran Mau-Them
,
Sebastien Moutton
,
Caroline Racine
,
Antonio Vitobello
,
Ange-Line Bruel
et al.
Article dans une revue
hal-03573698v1
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Ange-Line Bruel
,
Sophie Nambot
,
Virginie Quéré
,
Antonio Vitobello
,
Julien Thevenon
et al.
Article dans une revue
hal-02626363v1
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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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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Article dans une revue
hal-02064139v1
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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Heather E. Olson
,
Nolwenn Jean-Marçais
,
Edward Yang
,
Delphine Héron
,
Katrina Tatton-Brown
et al.
Article dans une revue
hal-02064909v1
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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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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot
,
Julien Thévenon
,
Paul Kuentz
,
Yannis Duffourd
,
Emilie Tisserant
et al.
Article dans une revue
hal-01635326v1
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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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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Quentin Thomas
,
Antonio Vitobello
,
Frédéric Tran Mau-Them
,
Yannis Duffourd
,
Agnès Fromont
et al.
Communication dans un congrès
hal-03463169v1
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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Aurore Garde
,
Jenny Cornaton
,
Arthur Sorlin
,
Sébastien Moutton
,
Claire Nicolas
et al.
Article dans une revue
hal-03124488v1
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven
,
Sophie Nambot
,
Amélie Piton
,
Nolwenn Jean-Marçais
,
Alice Masurel
et al.
Article dans une revue
hal-02883449v1
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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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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
Michele Bertacchi
,
Anna Lisa Romano
,
Agnès Loubat
,
Frederic Tran Mau-Them
,
Marjolaine Willems
et al.
Article dans une revue
hal-02890188v1
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2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
Ange-Line Bruel
,
Antonio Vitobello
,
Frédéric Tran Mau-Them
,
Sophie Nambot
,
Yannis Duffourd
et al.
Article dans une revue
hal-01978260v1
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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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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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Cohen syndrome is associated with major glycosylation defects
Laurence Duplomb
,
Sandrine Duvet
,
Damien Picot
,
Gaetan Jego
,
Salima El Chehadeh-Djebbar
et al.
Article dans une revue
hal-01687667v1
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
Mirna Assoum
,
Christophe Philippe
,
Bertrand Isidor
,
Laurence Perrin
,
Periklis Makrythanasis
et al.
Article dans une revue
hal-01447201v1
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15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia
Minh-Tuan Huynh
,
Anne-Sophie Lambert
,
Lucie Tosca
,
François Petit
,
Christophe Philippe
et al.
Article dans une revue
hal-01882481v1
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
Article dans une revue
istex
hal-01237099v1
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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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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurélie Bourchany
,
Christel Thauvin-Robinet
,
Daphne Lehalle
,
Ange-Line Bruel
,
Paul Masurel-Paulet
et al.
Article dans une revue
hal-01626052v1
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