De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... Science 350 (6265), 1262-1266, 2015 | 848 | 2015 |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ... Nature genetics 49 (11), 1593-1601, 2017 | 829 | 2017 |
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 | 265 | 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 | 227 | 2019 |
MVP predicts the pathogenicity of missense variants by deep learning H Qi, H Zhang, Y Zhao, C Chen, JJ Long, WK Chung, Y Guan, Y Shen Nature communications 12 (1), 510, 2021 | 182* | 2021 |
Genomic analyses implicate noncoding de novo variants in congenital heart disease F Richter, SU Morton, SW Kim, A Kitaygorodsky, LK Wasson, KM Chen, ... Nature genetics 52 (8), 769-777, 2020 | 144 | 2020 |
Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults N Zhu, C Gonzaga-Jauregui, CL Welch, L Ma, H Qi, AK King, U Krishnan, ... Circulation: Genomic and Precision Medicine 11 (4), e001887, 2018 | 136 | 2018 |
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders H Qi, L Yu, X Zhou, J Wynn, H Zhao, Y Guo, N Zhu, A Kitaygorodsky, ... PLoS genetics 14 (12), e1007822, 2018 | 107 | 2018 |
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension MS Bohnen, L Ma, N Zhu, H Qi, C McClenaghan, C Gonzaga-Jauregui, ... Circulation: Genomic and Precision Medicine 11 (10), e002087, 2018 | 82 | 2018 |
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia M Longoni, FA High, H Qi, MP Joy, R Hila, CM Coletti, J Wynn, ... Human genetics 136, 679-691, 2017 | 71 | 2017 |
Deep genetic connection between cancer and developmental disorders H Qi, C Dong, WK Chung, K Wang, Y Shen Human mutation 37 (10), 1042-1050, 2016 | 41 | 2016 |
Contrasting determinants of mutation rates in germline and soma C Chen, H Qi, Y Shen, J Pickrell, M Przeworski Genetics 207 (1), 255-267, 2017 | 37 | 2017 |
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease A Hsieh, SU Morton, JAL Willcox, JM Gorham, AC Tai, H Qi, S DePalma, ... Genome medicine 12, 1-18, 2020 | 32 | 2020 |
Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches F Richter, SU Morton, H Qi, A Kitaygorodsky, J Wang, J Homsy, ... BioRxiv, 2020.03. 24.994160, 2020 | 15 | 2020 |
Computational genomics and genetics of developmental disorders H Qi Columbia University, 2018 | | 2018 |
IMPACT OF DAMAGING DE NOVO VARIANTS ON CLINICAL OUTCOMES IN CONGENITAL HEART DISEASE MJ Lewis, H Qi, A Hsieh, M Rosenbaum, Y Shen, W Chung Journal of the American College of Cardiology 69 (11S), 2553-2553, 2017 | | 2017 |
CFHMM: Heterogeneous Tumor CNV Classification by Hidden Markov A Obradovic, H Qi Columbia Undergraduate Science Journal 10, 2016 | | 2016 |
De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... | | |