Publications by authors named "V Saillour"

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Virginie Saillour

Genet Med· November 2024

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Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
M Tusseau, M Eyries, N Chatron, F Coulet, A Guichet, V Saillour

Eur J Med Genet· April 2024

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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Virginie Saillour

Genet Med· December 2023

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Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic Variants.
Benoit Rucheton, Claire Ewenczyk, Pauline Gaignard, Jean-Madeleine de Sainte Agathe, Anne-Laure Fauret, Virginie Saillour

Neurol Genet· December 2021

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VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Ariane Lunati, Arnaud Petit, Hélène Lapillonne, Christine Gameiro, Virginie Saillour

Am J Hematol· April 2021

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