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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 | 226 | 2019 |
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease N Zhu, CL Welch, J Wang, PM Allen, C Gonzaga-Jauregui, L Ma, AK King, ... Genome medicine 10, 1-11, 2018 | 140 | 2018 |
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension N Zhu, MW Pauciulo, CL Welch, KA Lutz, AW Coleman, ... Genome medicine 11, 1-16, 2019 | 118 | 2019 |
Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorder M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, ... The American Journal of Human Genetics 104 (2), 287-298, 2019 | 57 | 2019 |
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing J Wang, PR Ahimaz, S Hashemifar, J Khlevner, JA Picoraro, ... European Journal of Human Genetics 29 (1), 122-130, 2021 | 26 | 2021 |
Exons as units of phenotypic impact for truncating mutations in autism AH Chiang, J Chang, J Wang, D Vitkup Molecular Psychiatry 26 (5), 1685-1695, 2021 | 10 | 2021 |
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders I Tabansky, AJ Tanaka, J Wang, G Zhang, I Dujmovic, S Mader, ... Frontiers in Immunology 13, 900605, 2022 | 4 | 2022 |