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Disruptive CHD8 mutations define a subtype of autism early in development R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ... Cell 158 (2), 263-276, 2014 | 822 | 2014 |
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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities LELM Vissers, BBA de Vries, K Osoegawa, IM Janssen, T Feuth, CO Choy, ... The American Journal of Human Genetics 73 (6), 1261-1270, 2003 | 560 | 2003 |
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Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 431 | 2020 |
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