Vincent Cantagrel

Université Paris Cité

France

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Articles (10)

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Collaborators (6)

Almundher Al‐Maawali

OMAN

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Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

UNITED KINGDOM

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Murim Choi

Associate Professor

Seoul National University

SOUTH KOREA

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Emilia Puig Lombardi

Head of Multi-Omics Analytics

Imagine Institute for Genetic Diseases

FRANCE

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Slim Azouzi

FRANCE

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Yoshiko Murakami

SA professor

Osaka University

JAPAN

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Vincent Cantagrel

Research Interests

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Articles (10)

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Biallelic loss of EMC10 leads to mild to severe intellectual disability.

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Une hypoplasie ponto-cérébelleuse causée par l’accumulation d’un inositol phosphate

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Collaborators (6)

Almundher Al‐Maawali

Ana Beleza-Meireles

Murim Choi

Emilia Puig Lombardi

Slim Azouzi

Yoshiko Murakami

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