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authFullName_s : Karine Siquier-Pernet
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Hisham Megahed , Michaël Nicouleau , Giulia Barcia , Daniel Medina-Cano , Karine Siquier-Pernet et al.
Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩
Journal articles inserm-01322562v1

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin , Karine Siquier-Pernet , Michael Nicouleau , Giulia Barcia , Ali Ahmad et al.
Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Journal articles hal-02017665v1
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Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Lam Son Nguyen , Marylin Lepleux , Mélanie Makhlouf , Christelle Martin , Julien Fregeac et al.
Molecular Autism, 2016, 7 (1), pp.1. ⟨10.1186/s13229-015-0064-6⟩
Journal articles inserm-01252689v1
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Aline Brechet , Rebecca Buchert , Jochen Schwenk , Sami Boudkkazi , Gerd Zolles et al.
Nature Communications, 2017, 8, pp.15910. ⟨10.1038/ncomms15910⟩
Journal articles hal-02044718v1

Contiguous mutation syndrome in the era of high-throughput sequencing

Maéva Langouët Langouët , Karine Siquier-Pernet , Sylvia Sanquer , Christine Bole-Feysot , Patrick Nitschke et al.
Molecular Genetics & Genomic Medicine, 2015, 3 (3), pp.215-220. ⟨10.1002/mgg3.134⟩
Journal articles hal-02087771v1

Refining the phenotype associated with CASC5 mutation

Abdelkrim Saadi , Florine Verny , Karine Siquier-Pernet , Christine Bole-Feysot , Patrick Nitschke et al.
neurogenetics, 2016, 17 (1), pp.71-78. ⟨10.1007/s10048-015-0468-7⟩
Journal articles hal-02090200v1
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh Pant , Imen Dorboz , Agatha Schluter , Stéphane Fourcade , Nathalie Launay et al.
Journal of Clinical Investigation, 2019, 129 (3), pp.1240-1256. ⟨10.1172/JCI123959⟩
Journal articles hal-02087782v1

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Matthieu Egloff , Lam-Son Nguyen , Karine Siquier-Pernet , Valérie Cormier-Daire , Geneviève Baujat et al.
European Journal of Human Genetics, 1970, 26 (6), pp.912-918. ⟨10.1038/s41431-018-0124-4⟩
Journal articles hal-02087837v1

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Dennis Mircsof , Maéva Langouët Langouët , Marlène Rio , Sébastien Moutton , Karine Siquier-Pernet et al.
Nature Neuroscience, 2015, 18 (12), pp.1731-1736. ⟨10.1038/nn.4169⟩
Journal articles hal-02088168v1

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Elizabeth J. Bhoj , Dong Li , Margaret Harr , Shimon Edvardson , Orly Elpeleg et al.
American Journal of Human Genetics, 2016, 98 (4), pp.782-788. ⟨10.1016/j.ajhg.2016.03.016⟩
Journal articles hal-02087858v1
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa , Stephanie Greville-Heygate , Maxime Bonnet , Annie Godwin , Christine Fagotto-Kaufmann et al.
American Journal of Human Genetics, 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩
Journal articles hal-02997930v1

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Lam Son Nguyen , Marylin Lepleux , Mélanie Makhlouf , Christelle Martin , Julien Fregeac et al.
Molecular Autism, 2016, 7 (1), ⟨10.1186/s13229-015-0064-6⟩
Journal articles hal-03030428v1