Présentation
Publications scientifiques
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2026Journal (source)Am J Hum GenetDominant and recessive ATOH1 variants cause distinct neurodevelopmental disor...
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2021Journal (source)Ann Neurol
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2020Journal (source)Neuron
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Feta...
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2020Journal (source)Genet Med.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, compone...
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2020Journal (source)Am. J. Hum. Genet.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,...
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2015Journal (source)Nat. Cell Biol.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ...
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2013Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2012Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...