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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome
X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in femalesExpand
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as wellExpand
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FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR update lists up toExpand
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PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1
Dendritic cells (DCs) play a critical role in the immune response to viral infection through the facilitation of cell-intrinsic antiviral activity and the activation of adaptive immunity. HIV-1Expand
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MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of theExpand
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Wilms tumor is the most common renal malignancy of childhood. To identify common variants that confer susceptibility to Wilms tumor we conducted a genome-wide association study in 757 cases and 1,879Expand
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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic formExpand
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MECP 2 is highly mutated in X-linked mental retardation
1INSERM Unité 129-ICGM, CHU Cochin 24 Rue du Faubourg Saint Jacques, 75014 Paris, France, 2Laboratoire de Biochimie et Génétique Moléculaire, CHU Cochin, Paris, France, 3CHU de Tours, Service deExpand
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Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling
The purpose of this article is to improve prenatal imaging diagnosis and counselling for cases of ‘isolated’ Dandy–Walker malformation (DWM) in the light of recent literature, which has demonstratedExpand
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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
BackgroundSmith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent ofExpand
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