Xavier Blanc

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Marco Garieri, Georgios Stamoulis, Xavier Blanc et al. · Proceedings of the National Academy of Sciences · 2018 · 105 citations

Life Sciences, Cell Biology, Genetics +17

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13

De novo variants in <i>CELF2</i> that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki et al. · Human Mutation · 2020 · 36 citations

Life Sciences, Genetics, Molecular Genetics +17

FOXI3 pathogenic variants cause one form of craniofacial microsomia

Ke Mao, Christelle Borel, Muhammad Ansar et al. · Nature Communications · 2023 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +16

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

Maria Lucia Cediel, Michał Stawarski, Xavier Blanc et al. · The American Journal of Human Genetics · 2022 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14