Population-Based Penetrance of Deleterious Clinical Variants
Forrest, Iain S, Chaudhary, Kumardeep, Vy, Ha My T, Petrazzini, Ben O, Bafna, Shantanu, Jordan, Daniel M, Rocheleau, Ghislain, Loos, Ruth J. F, Nadkarni, Girish N, Cho, Judy H, Do, Ron
Published in JAMA : the journal of the American Medical Association (25.01.2022)
Published in JAMA : the journal of the American Medical Association (25.01.2022)
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Journal Article
Genetic pleiotropy of ERCC6 loss‐of‐function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries
Forrest, Iain S., Chaudhary, Kumardeep, Vy, Ha My T., Bafna, Shantanu, Kim, Soyeon, Won, Hong‐Hee, Loos, Ruth J.F., Cho, Judy, Pasquale, Louis R., Nadkarni, Girish N., Rocheleau, Ghislain, Do, Ron
Published in Human mutation (01.08.2021)
Published in Human mutation (01.08.2021)
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Journal Article
Machine Learning Identifies Plasma Metabolites Associated With Heart Failure in Underrepresented Populations With the TTR V122I Variant
Park, Joshua K, Petrazzini, Ben O, Saha, Aparna, Vaid, Akhil, Vy, Ha My T, Márquez-Luna, Carla, Chan, Lili, Nadkarni, Girish N, Do, Ron
Published in Journal of the American Heart Association (18.04.2023)
Published in Journal of the American Heart Association (18.04.2023)
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Journal Article
Multimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population
Jiang, Joy, Thi Vy, Ha My, Charney, Alexander, Kovatch, Patricia, Reddy, Vivek, Jayaraman, Pushkala, Do, Ron, Khera, Rohan, Chugh, Sumeet, Bhatt, Deepak L., Vaid, Akhil, Lampert, Joshua, Nadkarni, Girish Nitin
Published in NPJ digital medicine (24.08.2024)
Published in NPJ digital medicine (24.08.2024)
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Journal Article
Molecular Analysis of the Kidney From a Patient With COVID-19–Associated Collapsing Glomerulopathy
Meliambro, Kristin, Li, Xuezhu, Salem, Fadi, Yi, Zhengzi, Sun, Zeguo, Chan, Lili, Chung, Miriam, Chancay, Jorge, Vy, Ha My T., Nadkarni, Girish, Wong, Jenny S., Fu, Jia, Lee, Kyung, Zhang, Weijia, He, John C., Campbell, Kirk N.
Published in Kidney medicine (01.07.2021)
Published in Kidney medicine (01.07.2021)
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Journal Article
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
Liu, Hongbo, Doke, Tomohito, Guo, Dong, Sheng, Xin, Ma, Ziyuan, Park, Joseph, Vy, Ha My T., Nadkarni, Girish N., Abedini, Amin, Miao, Zhen, Palmer, Matthew, Voight, Benjamin F., Li, Hongzhe, Brown, Christopher D., Ritchie, Marylyn D., Shu, Yan, Susztak, Katalin
Published in Nature genetics (01.07.2022)
Published in Nature genetics (01.07.2022)
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Journal Article
Genetically Downregulated Interleukin-6 Signaling Is Associated With a Favorable Cardiometabolic Profile: A Phenome-Wide Association Study
Georgakis, Marios K, Malik, Rainer, Li, Xue, Gill, Dipender, Levin, Michael G, Vy, Ha My T, Judy, Renae, Ritchie, Marylyn, Verma, Shefali S, Nadkarni, Girish N, Damrauer, Scott M, Theodoratou, Evropi, Dichgans, Martin
Published in Circulation (New York, N.Y.) (16.03.2021)
Published in Circulation (New York, N.Y.) (16.03.2021)
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Journal Article
Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record–Linked Biobanks
Tran, Jessica H., Kang, Joyce, Han, Elaine, Gupta, Urvi, Seresirikachorn, Kasem, Vy, Ha My T., Zhao, Yan, Rocheleau, Ghislain, Luo, Yuyang, Lee, Rachel, Do, Ron, Friedman, David S., Kang, Jae H., Wiggs, Janey L., Pasquale, Louis R., Segrè, Ayellet V., Zebardast, Nazlee
Published in American journal of ophthalmology (01.11.2024)
Published in American journal of ophthalmology (01.11.2024)
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Journal Article
Polygenic prediction of preeclampsia and gestational hypertension
Honigberg, Michael C., Truong, Buu, Khan, Raiyan R., Xiao, Brenda, Bhatta, Laxmi, Vy, Ha My T., Guerrero, Rafael F., Schuermans, Art, Selvaraj, Margaret Sunitha, Patel, Aniruddh P., Koyama, Satoshi, Cho, So Mi Jemma, Vellarikkal, Shamsudheen Karuthedath, Trinder, Mark, Urbut, Sarah M., Gray, Kathryn J., Brumpton, Ben M., Patil, Snehal, Zöllner, Sebastian, Antopia, Mariah C., Saxena, Richa, Nadkarni, Girish N., Do, Ron, Yan, Qi, Pe’er, Itsik, Verma, Shefali Setia, Gupta, Rajat M., Haas, David M., Martin, Hilary C., van Heel, David A., Laisk, Triin, Natarajan, Pradeep
Published in Nature medicine (01.06.2023)
Published in Nature medicine (01.06.2023)
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Journal Article
Genome-wide polygenic risk score for retinopathy of type 2 diabetes
Forrest, Iain S, Chaudhary, Kumardeep, Paranjpe, Ishan, Vy, Ha My T, Marquez-Luna, Carla, Rocheleau, Ghislain, Saha, Aparna, Chan, Lili, Van Vleck, Tielman, Loos, Ruth J F, Cho, Judy, Pasquale, Louis R, Nadkarni, Girish N, Do, Ron
Published in Human molecular genetics (29.05.2021)
Published in Human molecular genetics (29.05.2021)
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Journal Article
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease
Petrazzini, Ben Omega, Forrest, Iain S., Rocheleau, Ghislain, Vy, Ha My T., Márquez-Luna, Carla, Duffy, Áine, Chen, Robert, Park, Joshua K., Gibson, Kyle, Goonewardena, Sascha N., Malick, Waqas A., Rosenson, Robert S., Jordan, Daniel M., Do, Ron
Published in Nature genetics (01.07.2024)
Published in Nature genetics (01.07.2024)
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Journal Article
Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes
Vy, Ha My T, Coca, Steven G, Sawant, Ashwin, Sakhuja, Ankit, Gutierrez, Orlando M, Cooper, Richard, Loos, Ruth J F, Horowitz, Carol R, Do, Ron, Nadkarni, Girish N
Published in Clinical journal of the American Society of Nephrology (01.03.2024)
Published in Clinical journal of the American Society of Nephrology (01.03.2024)
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Journal Article
Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system
Forrest, Iain S., Duffy, Áine, Park, Joshua K., Vy, Ha My T., Pasquale, Louis R., Nadkarni, Girish N., Cho, Judy H., Do, Ron
Published in Cell reports. Medicine (21.05.2024)
Published in Cell reports. Medicine (21.05.2024)
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Journal Article
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program
Klarin, Derek, Devineni, Poornima, Sendamarai, Anoop K., Angueira, Anthony R., Graham, Sarah E., Shen, Ying H., Levin, Michael G., Pirruccello, James P., Surakka, Ida, Karnam, Purushotham R., Roychowdhury, Tanmoy, Li, Yanming, Wang, Minxian, Aragam, Krishna G., Paruchuri, Kaavya, Zuber, Verena, Shakt, Gabrielle E., Tsao, Noah L., Judy, Renae L., Vy, Ha My T., Verma, Shefali S., Rader, Daniel J., Do, Ron, Bavaria, Joseph E., Nadkarni, Girish N., Ritchie, Marylyn D., Burgess, Stephen, Guo, Dong-chuan, Ellinor, Patrick T., LeMaire, Scott A., Milewicz, Dianna M., Willer, Cristen J., Natarajan, Pradeep, Tsao, Philip S., Pyarajan, Saiju, Damrauer, Scott M.
Published in Nature genetics (01.07.2023)
Published in Nature genetics (01.07.2023)
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Journal Article
Genome-Wide Epistatic Interaction between DEF1B and APOL1 High-Risk Genotypes for Chronic Kidney Disease
Vy, Ha My T, Lin, Bridget M, Gulamali, Faris F, Kooperberg, Charles, Graff, Mariaelisa, Wong, Jenny, Campbell, Kirk N, Matise, Tara C, Coresh, Josef, Thomas, Fridtjof, Reiner, Alexander P, Nassir, Rami, Schnatz, Peter F, Johns, Tanya, Buyske, Steven, Haiman, Christopher, Cooper, Richard, Loos, Ruth J F, Horowitz, Carol R, Gutierrez, Orlando M, Do, Ron, Franceschini, Nora, Nadkarni, Girish N
Published in Clinical journal of the American Society of Nephrology (01.10.2022)
Published in Clinical journal of the American Society of Nephrology (01.10.2022)
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Journal Article
Phenome-wide Mendelian randomization study of plasma triglyceride levels and 2600 disease traits
Park, Joshua K, Bafna, Shantanu, Forrest, Iain S, Duffy, Áine, Marquez-Luna, Carla, Petrazzini, Ben O, Vy, Ha My, Jordan, Daniel M, Verbanck, Marie, Narula, Jagat, Rosenson, Robert S, Rocheleau, Ghislain, Do, Ron
Published in eLife (29.03.2023)
Published in eLife (29.03.2023)
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Journal Article
Short-term prediction of coronary artery disease using serum metabolomic patterns
Petrazzini, Ben Omega, Vaid, Akhil, Park, Joshua K., Marquez-Luna, Carla, Vy, Ha My, Saha, Aparna, Chaudhary, Kumardeep, Cho, Judy, Chan, Lili, Argulian, Edgar, Narula, Jagat, Nadkarni, Girish, Do, Ron
Published in American heart journal plus (01.12.2022)
Published in American heart journal plus (01.12.2022)
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Journal Article