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authFullName_s : Sébastien Moutton

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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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.
Frontiers in Cell and Developmental Biology, 2022, 10, pp.1021785. ⟨10.3389/fcell.2022.1021785⟩
Article dans une revue hal-03886419v1

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
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lisa Lenaerts , Sara Reynhout , Iris Verbinnen , Frederic Laumonnier , Annick Toutain et al.
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Article dans une revue inserm-03273405v1

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

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
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Chloé Angelini , Julien van Gils , Antoine Bigourdan , Pierre-Simon Jouk , Didier Lacombe et al.
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
Article dans une revue hal-01952641v1

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Gerarda Cappuccio , Camille Sayou , Pauline Le Tanno , Emilie Tisserant , Ange-Line Bruel et al.
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Article dans une revue hal-02928068v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman , Anne-Claire Mazery , Antoine Visier , Clarisse Baumann , Dominique Lachesnais et al.
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Article dans une revue hal-01560204v1
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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

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Anne-Sophie Denommé-Pichon , Antonio Vitobello , Robert Olaso , Alban Ziegler , Médéric Jeanne et al.
European Journal of Human Genetics, 2022, 30 (5), pp.567-576. ⟨10.1038/s41431-021-00998-4⟩
Article dans une revue hal-03854163v1

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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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.
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
Article dans une revue hal-03881856v1

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor , Lynette Sadleir , Reza Asadollahi , Silvia Azzarello-Burri , Agatino Battaglia et al.
American Journal of Human Genetics, 2018, 103 (2), pp.305-316. ⟨10.1016/j.ajhg.2018.07.003⟩
Article dans une revue hal-02063487v1

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
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle et al.
Human Mutation, 2020, 41 (1), pp.222-239. ⟨10.1002/humu.23912⟩
Article dans une revue hal-02393697v1
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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.
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Article dans une revue hal-03269307v1
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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.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Article dans une revue hal-01237103v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Article dans une revue hal-01691932v1
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

Tristan Sands , Francesco Miceli , Gaetan Lesca , Anita Beck , Lynette Sadleir et al.
Annals of Neurology, 2019, ⟨10.1002/ana.25522⟩
Article dans une revue hal-02151807v1