Publications by authors named "Cedric Vignal"

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Cédric Vignal

Nat Genet· June 2025

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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N Mohammed, Ahlam A A Hamed

BMC Med Genomics· November 2022

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Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed

Front Genet· June 2022

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Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed

J Hum Genet· March 2022

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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Cédric Vignal

Am J Hum Genet· November 2021

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Yline Capri, Elisabetta Flex, Oliver H F Krumbach, Giovanna Carpentieri, Serena Cecchetti, Cédric Vignal

Am J Hum Genet· June 2019

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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Hélène Cavé, Aurélie Caye, Nehla Ghedira, Yline Capri, Nathalie Pouvreau, Cédric Vignal

Eur J Hum Genet· August 2016

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Acute lymphoblastic leukemia in the context of RASopathies.
Hélène Cavé, Aurélie Caye, Marion Strullu, Nathalie Aladjidi, Cédric Vignal

Eur J Med Genet· March 2016

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