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authFullName_s : Cyril Mignot

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria Bramswig , Aida Bertoli-Avella , Beate Albrecht , Aida Al Aqeel , Amal Alhashem et al.
Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩
Journal articles hal-01932799v1

Stratégie d'exploration d'une déficience intellectuelle inexpliquée

Alain Verloes , Delphine Heron , T, Billette de Villemeur , Alexandra Afenjar , N. Bahi-Buisson et al.
Archives de Pédiatrie, 2012, 19 (2), pp.194-207
Journal articles hal-00916006v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Claire Bar , Delphine Breuillard , Mathieu Kuchenbuch , Mélanie Jennesson , Gwenaël Le Guyader et al.
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Journal articles hal-03485808v1

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⟩
Journal articles hal-01560200v1
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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Marie-Lorraine Monin , Cyril Mignot , Pascale de Lonlay , Bénédicte Héron , Alice Masurel et al.
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.207. ⟨10.1186/s13023-014-0207-4⟩
Journal articles hal-01112338v1
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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances et al.
Genetics in Medicine, 2021, ⟨10.1038/s41436-020-01039-z⟩
Journal articles hal-03127056v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian I. Rice , Sehoon Park , Francesco Gavazzi , Laura Adang , Loveline Ayuk et al.
Human Mutation, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩
Journal articles hal-02996412v1
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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⟩
Journal articles 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⟩
Journal articles hal-01502135v1
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A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Diane Doummar , Cyril Mignot , Emmanuelle Apartis , Laurent Villard , Diana Rodriguez et al.
Movement Disorders, 2015, 30 (10), pp.1431-1432. ⟨10.1002/mds.26303⟩
Journal articles istex hal-01664305v1
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Searching for secondary findings: considering actionability and preserving the right not to know

Bertrand Isidor , Sophie Julia , Pascale Saugier-Veber , Paul-Loup Weil-Dubuc , Stephane Bezieau et al.
European Journal of Human Genetics, 2019, 27 (10), pp.1481-1484. ⟨10.1038/s41431-019-0438-x⟩
Journal articles hal-02904506v1
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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.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1

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⟩
Journal articles hal-02538107v1
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh , Delphine Héron , Timothy J. Edwards , Angélique Quartier , Charles Galea et al.
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Journal articles hal-01502133v1

Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11

Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt , Tiffany Busa et al.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

Caroline Nava , Johanna Rupp , Jean-Paul Boissel , Cyril Mignot , Agnès Rastetter et al.
Amino Acids, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Journal articles hal-01191525v1
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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⟩
Journal articles hal-01920261v1
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Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56

Anne Legrand , Claire Pujol , Christelle M Durand , Aurélie Mesnil , Isabelle Rubera et al.
Journal of Internal Medicine, 2021, 289 (5), pp.709. ⟨10.1111/joim.13193⟩
Journal articles pasteur-03099934v1
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Increased diagnostic yield in complex dystonia through exome sequencing

Thomas Wirth , Christine Tranchant , Nathalie Drouot , Boris Keren , Cyril Mignot et al.
Parkinsonism & Related Disorders, 2020, 74, pp.50 - 56. ⟨10.1016/j.parkreldis.2020.04.003⟩
Journal articles hal-03490916v1
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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⟩
Journal articles hal-01919142v1
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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Cyril Mignot , Emmanuelle Apartis , Alexandra Durr , Charles Marques Lourenço , Perrine Charles et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.173. ⟨10.1186/1750-1172-8-173⟩
Journal articles inserm-00907850v1

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Marie Vincent , David Geneviève , Agnès Ostertag , Sandrine Marlin , Didier Lacombe et al.
Genetics in Medicine, 2016, 18 (1), pp.49-56. ⟨10.1038/gim.2015.29⟩
Journal articles hal-01134364v1

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste et al.
Epilepsia, 2019, ⟨10.1111/epi.14727⟩
Journal articles hal-02417625v1

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances et al.
Genetics in Medicine, 2021, 23 (5), pp.968-971. ⟨10.1038/s41436-020-01039-z⟩
Journal articles hal-03967477v1

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.

Cyril Mignot , Cécile Delarasse , Séverine Escaich , Bruno Della Gaspera , Eric Noé et al.
Experimental Cell Research, 2007, 313 (13), pp.2766-79. ⟨10.1016/j.yexcr.2007.04.035⟩
Journal articles istex hal-00306401v1
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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.

Jérôme Stirnemann , Marie Vigan , Dalil Hamroun , Djazia Heraoui , Linda Rossi-Semerano et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.77. ⟨10.1186/1750-1172-7-77⟩
Journal articles inserm-00767459v1

A cytometric study of the red blood cells in gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis

Daniela Bratosin , J Pierre Tissier , Hélène Lapillonne , Olivier Hermine , Thierry Billette de Villemeur et al.
Cytometry Part B: Clinical Cytometry, 2011, 80B (1), pp.28 - 37. ⟨10.1002/cyto.b.20539⟩
Journal articles hal-02646773v1
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider et al.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Journal articles hal-02302579v1