Christel Thauvin

Laurence Faivre 11 collaborations

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Paul Kuentz 5 collaborations

Jean-Baptiste Rivière 5 collaborations

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Arthur Sorlin 4 collaborations

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Christophe Philippe 4 collaborations

Veronica A Kinsler 4 collaborations

Pierre Vabres 4 collaborations

Tony Roscioli 3 collaborations

Stanislav S Kholmanskikh 3 collaborations

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Odile Boute 3 collaborations

Alain Bron 3 collaborations

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Julien Thevenon 3 collaborations

William B Dobyns 3 collaborations

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M Elizabeth Ross 3 collaborations

Laurence Duplomb 2 collaborations

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Quentin Thomas 2 collaborations

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Maria Iascone 2 collaborations

Michael F Buckley 2 collaborations

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None None 2 collaborations

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Affiliations

Publications (17)

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.

Development of resiquimod-loaded modified PLA-based nanoparticles for cancer immunotherapy: A kinetic study.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Quantitative Analysis of the Potency of Equimolar Two-Drug Combinations and Combi-Molecules Involving Kinase Inhibitors In Vitro: The Concept of Balanced Targeting.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Réseau de co-auteurs