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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya, JB Hall, JU Obiajulu, ... Nature genetics 54 (9), 1305-1319, 2022 | 247 | 2022 |
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes P Feliciano, X Zhou, I Astrovskaya, TN Turner, T Wang, L Brueggeman, ... NPJ genomic medicine 4 (1), 19, 2019 | 224 | 2019 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 224 | 2019 |
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Disruption of POGZ is associated with intellectual disability and autism spectrum disorders HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ... The American Journal of Human Genetics 98 (3), 541-552, 2016 | 182 | 2016 |
Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 175 | 2021 |
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SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia H Guo, X Jin, T Zhu, T Wang, P Tong, L Tian, Y Peng, L Sun, A Wan, ... Journal of medical genetics 51 (8), 518-525, 2014 | 127 | 2014 |
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Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia H Guo, P Tong, Y Liu, L Xia, T Wang, Q Tian, Y Li, Y Hu, Y Zheng, X Jin, ... Genetics in Medicine 17 (4), 300-306, 2015 | 81 | 2015 |
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 74 | 2021 |
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