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A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

François Cartault , Caroline Nava , Anne-Claire Malbrunot , Patrick Munier , Jean-Christophe Hebert et al.
DNA Repair (Amst), 2011, 10 (6), pp.577-85. ⟨10.1016/j.dnarep.2011.03.005⟩
Journal articles istex hal-00662712v1

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
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Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome.

Hélène Darville , Aurélie Poulet , Frédérique Rodet-Amsellem , Laure Chatrousse , Julie Pernelle et al.
EBioMedicine, 2016, 9, pp.293-305. ⟨10.1016/j.ebiom.2016.05.032⟩
Journal articles hal-01326262v1

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’donnell-Luria , Lynn Pais , Víctor Faundes , Jordan Wood , Abigail Sveden et al.
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Journal articles hal-02417518v1

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

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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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

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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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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Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability

Giulia Barcia , Nicole Chemaly , Mathieu Kuchenbuch , Monika Eisermann , Stephanie Gobin-Limballe et al.
Neurology Genetics, 2019, 5 (6), pp.e363. ⟨10.1212/NXG.0000000000000363⟩
Journal articles hal-02498046v1
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff , Katrine M. Johannesen , Ulrike B. S. Hedrich , Silvia Masnada , Guido Rubboli et al.
Brain - A Journal of Neurology , 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Journal articles hal-01668653v1
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

Claire S. Leblond , Caroline Nava , Anne Polge , Julie Gauthier , Guillaume Huguet et al.
PLoS Genetics, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩
Journal articles inserm-01061498v1
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava , Carine Dalle , Agnès Rastetter , Pasquale Striano , Carolien de Kovel et al.
Nature Genetics, 2014, 46 (6), pp.640-645. ⟨10.1038/ng.2952⟩
Journal articles hal-01710614v1
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PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

Kévin Duarte , Solveig Heide , Sandrine Poea-Guyon , Veronique Rousseau , Christel Depienne et al.
Neurobiology of Disease, 2020, 136, pp.104709. ⟨10.1016/j.nbd.2019.104709⟩
Journal articles hal-02937576v1