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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.
Journal articles
inserm-01322562v1
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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.
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.
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.
Journal articles
hal-02044718v1
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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.
Journal articles
hal-02087771v1
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Refining the phenotype associated with CASC5 mutation
Abdelkrim Saadi
,
Florine Verny
,
Karine Siquier-Pernet
,
Christine Bole-Feysot
,
Patrick Nitschke
et al.
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 articles
hal-02087782v1
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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.
Journal articles
hal-02087837v1
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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.
Journal articles
hal-02088168v1
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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.
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.
Journal articles
hal-02997930v1
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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.
Journal articles
hal-03030428v1
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