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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.
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Article dans une revue hal-01668025v1

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.
Journal of Medical Genetics, 2021, pp.2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
Article dans une revue hal-03266264v1

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.
Human Genetics, 2020, 139 (11), pp.1381-1390. ⟨10.1007/s00439-020-02178-8⟩
Article dans une revue hal-03573698v1

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.
European Journal of Human Genetics, 2019, 27 (10), pp.1519-1531. ⟨10.1038/s41431-019-0442-1⟩
Article dans une revue hal-02626363v1

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.
Journal of Medical Genetics, 2014, 52 (1), pp.61 - 70. ⟨10.1136/jmedgenet-2014-102748⟩
Article dans une revue hal-01686391v1

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.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Article dans une revue hal-02064139v1

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.
American Journal of Human Genetics, 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
Article dans une revue hal-02064909v1

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.
Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩
Article dans une revue hal-02461440v1

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.
Genetics in Medicine, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
Article dans une revue hal-01635326v1

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.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
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.
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Communication dans un congrès hal-03463169v1

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.
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Article dans une revue hal-03124488v1

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.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
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.
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Article dans une revue hal-01932796v1

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.
EMBO Journal, 2020, 39 (13), pp.e104163. ⟨10.15252/embj.2019104163⟩
Article dans une revue hal-02890188v1

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.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0383-z⟩
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.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
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.
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359v1

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb , Sandrine Duvet , Damien Picot , Gaetan Jego , Salima El Chehadeh-Djebbar et al.
Human Molecular Genetics, 2014, 23 (9), pp.2391 - 2399. ⟨10.1093/hmg/ddt630⟩
Article dans une revue hal-01687667v1

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.
American Journal of Human Genetics, 2016, 99 (6), pp.1368 - 1376. ⟨10.1016/j.ajhg.2016.10.009⟩
Article dans une revue hal-01447201v1

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.
European Journal of Medical Genetics, 2018, 61 (8), pp.459 - 464. ⟨10.1016/j.ejmg.2018.03.005⟩
Article dans une revue hal-01882481v1

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.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
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.
Journal of Investigative Dermatology, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Article dans une revue hal-03158801v1

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.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1