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authFullName_s : Arnold Munnich

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Anne Philippe , Valérie Malan , Marie-Line Jacquemont , Nathalie Boddaert , Jean-Paul Bonnefont et al.
American Journal of Medical Genetics Part A, 2013, 161 (6), pp.1370-5. ⟨10.1002/ajmg.a.35307⟩
Journal articles istex hal-00877108v1

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Soumaya Mougou-Zerelli , Sophie Thomas , Emmanuelle Szenker , Sophie Audollent , Nadia Elkhartoufi et al.
Human Mutation, 2009, 30 (11), pp.1574-82. ⟨10.1002/humu.21116⟩
Journal articles inserm-00420359v1
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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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New insights into genotype-phenotype correlation for GLI3 mutations

Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Journal articles hal-01064583v1

Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

Carine Le Goff , Clementine Mahaut , Armand Bottani , Berenice Doray , Alice Goldenberg et al.
Human Mutation, 2013, 34 (1), pp.88-92. ⟨10.1002/humu.22216⟩
Journal articles istex hal-01064046v1
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel et al.
Genetics in Medicine, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
Journal articles hal-02268419v1
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.

Lucas Fares-Taie , Sylvie Gerber , Akihiko Tawara , Arturo Ramirez-Miranda , Jean-Yves Douet et al.
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
Journal articles hal-01134461v1
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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

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A from acrodysostosis to acroscyphodysplasia

Caroline Michot , Carine Le Goff , Edward Blair , Patricia Blanchet , Yline Capri et al.
European Journal of Human Genetics, 2018, 26 (11), pp.1611-1622. ⟨10.1038/s41431-018-0135-1⟩
Journal articles hal-01863363v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson et al.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Journal articles hal-02959318v1