Laurence Duplomb

France

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Articles (10)

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2021

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2021

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2021

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2021

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2020

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2020

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2020

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2020

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2020

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2020

Collaborators (6)

Pierre-Simon Jouk

Prof

Centre Hospitalier Universitaire Vaudois

FRANCE

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Justin Cotney

Associate Professor

University of Connecticut School of Medicine

UNITED STATES

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Nicolas Navarro

Associate professor

FRANCE

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Javier Mendoza-Revilla

Institut Pasteur

FRANCE

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Tábita Hünemeier

SPAIN

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Joerg Betschinger

Novartis Institutes for BioMedical Research Inc

SWITZERLAND

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Laurence Duplomb

Research Interests

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Articles (10)

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Periodontal disorders in a cohort of patients with Cohen syndrome

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

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

Collaborators (6)

Pierre-Simon Jouk

Justin Cotney

Nicolas Navarro

Javier Mendoza-Revilla

Tábita Hünemeier

Joerg Betschinger

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