Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
2019 · Nature Communications · 47 citations
https://doi.org/10.1038/s41467-018-07067-3
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Andrea Accogli
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Andrea Accogli is an academic researcher from McGill University Health Centre. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities. The author has an h-index of 28, co-authored 129 publications.
ORCID: 0000-0001-8724-6721Papers by this author
worksA homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022 · Genetics in Medicine · 17 citations
https://doi.org/10.1016/j.gim.2022.07.013
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024 · European Journal of Human Genetics · 15 citations
https://doi.org/10.1038/s41431-024-01701-z
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024 · European Journal of Human Genetics · 15 citations
https://doi.org/10.1038/s41431-024-01701-z
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency
2021 · Genetics in Medicine · 14 citations
https://doi.org/10.1016/j.gim.2021.09.019
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
2023 · Human Genetics · 14 citations
https://doi.org/10.1007/s00439-023-02552-2
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