Cedric Vignal
Paris, France
Last Updated: 09/26/2026
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Found 8 publications
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Journal: BMC medical genomics
Published: February 25, 2022
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Journal: Frontiers in genetics
Published: February 24, 2022
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Journal: American journal of human genetics
Published: July 21, 2021
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Journal: Journal of human genetics
Published: February 17, 2021
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Journal: American journal of human genetics
Published: March 06, 2019
Acute lymphoblastic leukemia in the context of RASopathies.
Journal: European journal of medical genetics
Published: December 24, 2015
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Journal: European journal of human genetics : EJHG
Published: November 22, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026