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authFullName_s : Jamel Chelly
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LIS1-Related Isolated Lissencephaly

Yoann Saillour , Nathalie Carion , Chloe Quelin , Pierre-Louis Leger , Nathalie Boddaert et al.
Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Journal articles hal-01104698v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1

Variants in CUL4B are Associated with Cerebral Malformations

Anneke T. Vulto-van Silfhout , Tadashi Nakagawa , Nadia Bahi-Buisson , Stefan A. Haas , Hao Hu et al.
Human Mutation, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
Journal articles hal-01116441v1

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

France Tuffery-Giraud , Christophe Béroud , France Leturcq , Rabah Ben Yaou , Dalil Hamroun et al.
Human Mutation, 2009, 30 (6), pp.934 - 945. ⟨10.1002/humu.20976⟩
Journal articles hal-01681838v1
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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Xavier Hubert Jaglin , Karine Poirier , Yoann Saillour , Emmanuelle Buhler , Guoling Tian et al.
Nature Genetics, 2009, 41 (6), pp.746-752. ⟨10.1038/ng.380⟩
Journal articles inserm-00404834v1

Correction: The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra et al.
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Journal articles hal-02066352v1

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt , Karine Poirier , Loic Broix , Nicolas Lebrun , Adrienne Elmorjani et al.
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
Journal articles hal-01313739v1
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Aurélie Nicolas , Céline Lucchetti-Miganeh , Rabah Ben Yaou , Jean-Claude Kaplan , Jamel Chelly et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.45. ⟨10.1186/1750-1172-7-45⟩
Journal articles inserm-00736304v1
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De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: an unusual presentation of tubulinopathy

Annie Laquerrière , Marie Gonzales , Yoann Saillour , Mara Cavallin , Nicole Joyē et al.
European Journal of Medical Genetics, 2015, 59 (4), pp.249-256. ⟨10.1016/j.ejmg.2015.12.007⟩
Journal articles hal-01259440v1
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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
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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