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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.
Journal articles
istex
hal-00662712v1
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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 articles
hal-03244899v1
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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.
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.
Journal articles
hal-01326262v1
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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.
Journal articles
hal-02417518v1
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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.
Journal articles
hal-01502135v1
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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.
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.
Journal articles
hal-01502133v1
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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.
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.
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.
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.
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.
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.
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.
Journal articles
hal-02937576v1
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