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| Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association M Cesana, L Vaccaro, MJ Larsen, M Kibæk, L Micale, S Riccardo, ... Human Genetics 142 (3), 343-350, 2023 | 3 | 2023 |
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| Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder S Morlino, L Vaccaro, MP Leone, G Nardella, L Bisceglia, RP Ortore, ... Journal of Human Genetics 69 (6), 287-290, 2024 | | 2024 |
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