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authFullName_s : Cyril Mignot

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

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
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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.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Article dans une revue hal-02347889v1

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.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
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.
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Article dans une revue hal-01668025v1

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.
Brain and Development, 2018, 40 (9), pp.768 - 774. ⟨10.1016/j.braindev.2018.05.008⟩
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.
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
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.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
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.
Frontiers in Cell and Developmental Biology, 2022, 10, pp.1021785. ⟨10.3389/fcell.2022.1021785⟩
Article dans une revue hal-03886419v1

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

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.
The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Article dans une revue hal-01560200v1

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.
Journal of Investigative Dermatology, 2016, 136 (5), pp.1060 - 1062. ⟨10.1016/j.jid.2016.01.015⟩
Article dans une revue hal-01404272v1

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.
American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩
Article dans une revue hal-02538107v1

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.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
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.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
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.
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
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.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
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.
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
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.
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359v1

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.
American Journal of Human Genetics, 2017, 101 (5), pp.664 - 685. ⟨10.1016/j.ajhg.2017.09.008⟩
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.
Journal of Investigative Dermatology, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Article dans une revue hal-03158801v1

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.
Journal of Neurology, 2016, 263 (7), pp.1314 - 1322. ⟨10.1007/s00415-016-8112-5⟩
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.
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
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.
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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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.
European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
Article dans une revue inserm-03846561v1