Bibliotecas PUC-SP - Busca Integrada

Leveraging electronic health record data for endometriosis research

af Nadia Penrod, Chelsea Okeh, Digna R. Velez Edwards, Kurt Barnhart, Suneeta Senapati, Shefali S. Verma
Udgivet i Frontiers in Digital Health (2023-06-01)

A simulation study investigating power estimates in phenome-wide association studies

af Anurag Verma, Yuki Bradford, Scott Dudek, Anastasia M. Lucas, Shefali S. Verma, Sarah A. Pendergrass, Marylyn D. Ritchie
Udgivet i BMC Bioinformatics (2018-04-01)

16 Cross-ancestry analysis of preeclampsia identifies novel maternal susceptibility loci

af Catherine A. Greene, Elizabeth A. Jasper, Jacklyn Hellwege, Shefali S. Verma, Brenda Xiao, Todd Edwards, Digna R. Velez Edwards
Udgivet i Journal of Clinical and Translational Science (2023-04-01)

Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations.

af John DePaolo, Marc R Bornstein, Renae Judy, Sarah Abramowitz, Shefali S Verma, Michael G Levin, Penn Medicine Biobank, Zoltan Arany, Scott M Damrauer
Udgivet i PLoS Genetics (2025-06-01)

Collective feature selection to identify crucial epistatic variants

af Shefali S. Verma, Anastasia Lucas, Xinyuan Zhang, Yogasudha Veturi, Scott Dudek, Binglan Li, Ruowang Li, Ryan Urbanowicz, Jason H. Moore, Dokyoon Kim, Marylyn D. Ritchie
Udgivet i BioData Mining (2018-04-01)

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population

af Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Regeneron Genetics Center, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie, Sony Tuteja
Udgivet i Journal of Translational Medicine (2022-11-01)

Genetics of height and risk of atrial fibrillation: A Mendelian randomization study.

af Michael G Levin, Renae Judy, Dipender Gill, Marijana Vujkovic, Shefali S Verma, Yuki Bradford, Regeneron Genetics Center, Marylyn D Ritchie, Matthew C Hyman, Saman Nazarian, Daniel J Rader, Benjamin F Voight, Scott M Damrauer
Udgivet i PLoS Medicine (2020-10-01)

A GWAS Study on Liver Function Test Using eMERGE Network Participants.

af Bahram Namjou, Keith Marsolo, Todd Lingren, Marylyn D Ritchie, Shefali S Verma, Beth L Cobb, Cassandra Perry, Terrie E Kitchner, Murray H Brilliant, Peggy L Peissig, Kenneth M Borthwick, Marc S Williams, Jane Grafton, Gail P Jarvik, Ingrid A Holm, John B Harley
Udgivet i PLoS ONE (2015-01-01)

PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies

af Molly A. Hall, John Wallace, Anastasia Lucas, Dokyoon Kim, Anna O. Basile, Shefali S. Verma, Cathy A. McCarty, Murray H. Brilliant, Peggy L. Peissig, Terrie E. Kitchner, Anurag Verma, Sarah A. Pendergrass, Scott M. Dudek, Jason H. Moore, Marylyn D. Ritchie
Udgivet i Nature Communications (2017-10-01)

Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts

af Amein K. Al-Ali, Abdullah M. Al-Rubaish, Rudaynah A. Alali, Mohammed S. Almansori, Mohammed A. Al-Jumaan, Abdullah M. Alshehri, Mohammed S. Al-Madan, ChittiBabu Vatte, Tess Cherlin, Sylvia Young, Shefali S. Verma, Grant Morahan, Bobby P. C. Koeleman, Brendan J. Keating
Udgivet i Scientific Reports (2023-12-01)

Effect of <em>CYP3A4</em>*22 and <em>PPAR-α</em> Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutane...

af Thomas O. Bergmeijer, Alfi Yasmina, Gerrit J. A. Vos, Paul W. A. Janssen, Christian M. Hackeng, Johannes C. Kelder, Shefali S. Verma, Marylyn D. Ritchie, Li Gong, Teri E. Klein, ICPC investigators, Anthonius de Boer, Olaf H. Klungel, Jurriën M. ten Berg, Vera H. M. Deneer
Udgivet i Genes (2020-09-01)

Novel EDGE encoding method enhances ability to identify genetic interactions.

af Molly A Hall, John Wallace, Anastasia M Lucas, Yuki Bradford, Shefali S Verma, Bertram Müller-Myhsok, Kristin Passero, Jiayan Zhou, John McGuigan, Beibei Jiang, Sarah A Pendergrass, Yanfei Zhang, Peggy Peissig, Murray Brilliant, Patrick Sleiman, Hakon Hakonarson, John B Harley, Krzysztof Kiryluk, Kristel Van Steen, Jason H Moore, Marylyn D Ritchie
Udgivet i PLoS Genetics (2021-06-01)

The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population

af Anurag Verma, Scott M. Damrauer, Nawar Naseer, JoEllen Weaver, Colleen M. Kripke, Lindsay Guare, Giorgio Sirugo, Rachel L. Kember, Theodore G. Drivas, Scott M. Dudek, Yuki Bradford, Anastasia Lucas, Renae Judy, Shefali S. Verma, Emma Meagher, Katherine L. Nathanson, Michael Feldman, Marylyn D. Ritchie, Daniel J. Rader, For The Penn Medicine BioBank
Udgivet i Journal of Personalized Medicine (2022-11-01)

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to Electronic Health Records

af David Russell Crosslin, David Russell Crosslin, Gerard eTromp, Amber eBurt, Daniel Seung Kim, Shefali S Verma, Anastasia M. Lucas, Yuki eBradford, Dana C. Crawford, Dana C. Crawford, Sebastian M. Armasu, John A. Heit, M. Geoffrey Hayes, Helena eKuivaniemi, Marylyn D Ritchie, Gail P. Jarvik, Gail P. Jarvik, Mariza eDe Andrade
Udgivet i Frontiers in Genetics (2014-11-01)

Imputation and quality control steps for combining multiple genome-wide datasets

af Shefali S Verma, Mariza ede Andrade, Gerard eTromp, Helena eKuivaniemi, Elizabeth ePugh, Bahram eNamjou, Shubhabrata eMukherjee, Gail P Jarvik, Leah Claire Kottyan, Amber eBurt, Yuki eBradford, Gretta D Armstrong, Kimberly eDerr, Dana eCrawford, Jonathan L Haines, Rongling eLi, David eCrosslin, Marylyn D Ritchie
Udgivet i Frontiers in Genetics (2014-12-01)

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

af Jonathan D. Mosley, QiPing Feng, Quinn S. Wells, Sara L. Van Driest, Christian M. Shaffer, Todd L. Edwards, Lisa Bastarache, Wei-Qi Wei, Lea K. Davis, Catherine A. McCarty, Will Thompson, Christopher G. Chute, Gail P. Jarvik, Adam S. Gordon, Melody R. Palmer, David R. Crosslin, Eric B. Larson, David S. Carrell, Iftikhar J. Kullo, Jennifer A. Pacheco, Peggy L. Peissig, Murray H. Brilliant, James G. Linneman, Bahram Namjou, Marc S. Williams, Marylyn D. Ritchie, Kenneth M. Borthwick, Shefali S. Verma, Jason H. Karnes, Scott T. Weiss, Thomas J. Wang, C. Michael Stein, Josh C. Denny, Dan M. Roden
Udgivet i Nature Communications (2018-08-01)

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

af Emily R. Holzinger, Shefali S. Verma, Carrie B. Moore, Molly Hall, Rishika De, Diane Gilbert-Diamond, Matthew B. Lanktree, Nathan Pankratz, Antoinette Amuzu, Amber Burt, Caroline Dale, Scott Dudek, Clement E. Furlong, Tom R. Gaunt, Daniel Seung Kim, Helene Riess, Suthesh Sivapalaratnam, Vinicius Tragante, Erik P.A. van Iperen, Ariel Brautbar, David S. Carrell, David R. Crosslin, Gail P. Jarvik, Helena Kuivaniemi, Iftikhar J. Kullo, Eric B. Larson, Laura J. Rasmussen-Torvik, Gerard Tromp, Jens Baumert, Karen J. Cruickshanks, Martin Farrall, Aroon D. Hingorani, G. K. Hovingh, Marcus E. Kleber, Barbara E. Klein, Ronald Klein, Wolfgang Koenig, Leslie A. Lange, Winfried Mӓrz, Kari E. North, N. Charlotte Onland-Moret, Alex P. Reiner, Philippa J. Talmud, Yvonne T. van der Schouw, James G. Wilson, Mika Kivimaki, Meena Kumari, Jason H. Moore, Fotios Drenos, Folkert W. Asselbergs, Brendan J. Keating, Marylyn D. Ritchie
Udgivet i BioData Mining (2017-07-01)

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

af Femke N. G. van ’t Hof, Ynte M. Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F. Baas, Jan D. Blankensteijn, Erwin P. Böttinger, Matthew J. Bown, Joseph Broderick, Philippe Bijlenga, David S. Carrell, Dana C. Crawford, David R. Crosslin, Christian Ebeling, Johan G. Eriksson, Myriam Fornage, Tatiana Foroud, Mikael von und zu Fraunberg, Christoph M. Friedrich, Emília I. Gaál, Omri Gottesman, Dong‐Chuan Guo, Seamus C. Harrison, Juha Hernesniemi, Albert Hofman, Ituro Inoue, Juha E. Jääskeläinen, Gregory T. Jones, Lambertus A. L. M. Kiemeney, Riku Kivisaari, Nerissa Ko, Seppo Koskinen, Michiaki Kubo, Iftikhar J. Kullo, Helena Kuivaniemi, Mitja I. Kurki, Aki Laakso, Dongbing Lai, Suzanne M. Leal, Hanna Lehto, Scott A. LeMaire, Siew‐Kee Low, Jennifer Malinowski, Catherine A. McCarty, Dianna M. Milewicz, Thomas H. Mosley, Yusuke Nakamura, Hirofumi Nakaoka, Mika Niemelä, Jennifer Pacheco, Peggy L. Peissig, Joanna Pera, Laura Rasmussen‐Torvik, Marylyn D. Ritchie, Fernando Rivadeneira, Andre M. van Rij, Regie Lyn P. Santos‐Cortez, Athanasios Saratzis, Agnieszka Slowik, Atsushi Takahashi, Gerard Tromp, André G. Uitterlinden, Shefali S. Verma, Sita H. Vermeulen, Gao T. Wang, Buhm Han, Gabriël J. E. Rinkel, Paul I. W. de Bakker, Matthew J. Bown, Seamus C. Harrison, Athanasios Saratzis, Ana Verissimo, Benjamin J. Wright, Suzannah Bumpstead, Annette F. Baas, Solveig Gretarsdottir, Stephen A. Badger, Anne H. Child, Rachel E. Clough, Gillian Cockerill, Hany Hafez, D. Julian A. Scott, Simon Futers, Soroush Sohrabi, Alberto Smith, Matthew M. Thompson, Frank M. van Bockxmeer, Stefan E. Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jan D. Blankensteijn, Joep A. W. Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A. Kiemeney, Jutta Palmen, Andrew J. Smith, Jes S. Lindholt, Declan T. Bradley, Matthew Waltham, Sarah Edkins, Rhian Gwilliam, Sarah E. Hunt, Simon Potter, Jonathan Golledge, Per Eriksson, Paul E. Norman, Janet T. Powell, Kari Stefansson, John R. Thompson, Steve E. Humphries, Robert D. Sayers, Panos Deloukas, Nilesh J. Samani, Gregory T. Jones, L. Victoria Phillip, Andre M. van Rij, Geraldine B. Hill, Michael J. A. Williams, Ian A. Thomson, Jo Krysa, Gerard T. Wilkins, Tony R. Merriman, Thodor M. Vasudevan, David R. Lewis, Ross D. Blair, Andrew A. Hill
Udgivet i Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (2016-07-01)

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

af Jacqueline Cappadocia, Lisa B. Aiello, Michael J. Kelley, Bryson W. Katona, Kara N. Maxwell, Anurag Verma, Ph.D., Shefali S. Verma, Ph.D., Yuki Bradford, M.S., Ashlei Brock, Stephanie DerOhannessian, Scott Dudek, M.S., Joseph Dunn, Theodore Drivas, M.D., Ph.D., Ned Haubein, Khadijah Hu-Sain, Renae Judy, Ashley Kloter, Yi-An Ko, Meghan Livingstone, Linda Morrel, Colleen Morse, M.S., Afiya Poindexter, Marjorie Risman, M.S., Teo Tran, Fred Vadivieso, JoEllen Weaver, Daniel J. Rader, M.D., Marylyn D. Ritchie, Ph.D., Michael D. Feldman, M.D., Ph.D., Christina Beechert, Caitlin Forsythe, M.S., Erin D. Fuller, Zhenhua Gu, M.S., Michael Lattari, Alexander Lopez, M.S., John D. Overton, Ph.D., Maria Sotiropoulos Padilla, M.S., Manasi Pradhan, M.S., Kia Manoochehri, B.S., Thomas D. Schleicher, M.S., Louis Widom, Sarah E. Wolf, M.S., Ricardo H. Ulloa, B.S., Amelia Averitt, Ph.D., Nilanjana Banerjee, Ph.D., Michael Cantor, M.D., Dadong Li, Ph.D., Sameer Malhotra, M.D., Deepika Sharma, MHI, Jeffrey Staples, Ph.D., Xiaodong Bai, Ph.D., Suganthi Balasubramanian, Ph.D., Suying Bao, Ph.D., Boris Boutkov, Ph.D., Siying Chen, Ph.D., Gisu Eom, B.S., Lukas Habegger, Ph.D., Alicia Hawes, B.S., Shareef Khalid, Olga Krasheninina, M.S., Rouel Lanche, B.S., Adam J. Mansfield, B.A., Evan K. Maxwell, Ph.D., George Mitra, B.A., Mona Nafde, M.S., Sean O’Keeffe, Ph.D., Max Orelus, B.B.A., Razvan Panea, Ph.D., Tommy Polanco, B.A., Ayesha Rasool, M.S., Jeffrey G. Reid, Ph.D., William Salerno, Ph.D., Jeffrey C. Staples, Ph.D., Kathie Sun, Ph.D., Goncalo Abecasis, D.Phil., Joshua Backman, Ph.D., Amy Damask, Ph.D., Lee Dobbyn, Ph.D., Manuel Allen Revez Ferreira, Ph.D., Arkopravo Ghosh, M.S., Christopher Gillies, Ph.D., Lauren Gurski, B.S., Eric Jorgenson, Ph.D., Hyun Min Kang, Ph.D., Michael Kessler, Ph.D., Jack Kosmicki, Ph.D., Alexander Li, Ph.D., Nan Lin, Ph.D., Daren Liu, M.S., Adam Locke, Ph.D., Jonathan Marchini, Ph.D., Anthony Marcketta, M.S., Joelle Mbatchou, Ph.D., Arden Moscati, Ph.D., Charles Paulding, Ph.D., Carlo Sidore, Ph.D., Eli Stahl, Ph.D., Kyoko Watanabe, Ph.D., Bin Ye, Ph.D., Blair Zhang, Ph.D., Andrey Ziyatdinov, Ph.D., Ariane Ayer, B.S., Aysegul Guvenek, Ph.D., George Hindy, Ph.D., Giovanni Coppola, M.D., Jan Freudenberg, M.D., Jonas Bovijn, M.D., Katherine Siminovitch, M.D., Kavita Praveen, Ph.D., Luca A. Lotta, M.D., Manav Kapoor, Ph.D., Mary Haas, Ph.D., Moeen Riaz, Ph.D., Niek Verweij, Ph.D., Olukayode Sosina, Ph.D., Parsa Akbari, Ph.D., Priyanka Nakka, Ph.D., Sahar Gelfman, Ph.D., Sujit Gokhale, B.E., Tanima De, Ph.D., Veera Rajagopal, Ph.D., Alan Shuldiner, M.D., Bin Ye, Ph.D., Gannie Tzoneva, Ph.D., Juan Rodriguez-Flores, Ph.D., Esteban Chen, M.S., Marcus B. Jones, Ph.D., Michelle G. LeBlanc, Ph.D., Jason Mighty, Ph.D., Lyndon J. Mitnaul, Ph.D., Nirupama Nishtala, Ph.D., Nadia Rana, Ph.D., Jaimee Hernandez, Goncalo Abecasis, PhD, Aris Baras, M.D., Michael Cantor, M.D., Giovanni Coppola, M.D., Andrew Deubler, Aris Economides, Ph.D., Luca A. Lotta, M.D., Ph.D., John D. Overton, Ph.D., Jeffrey G. Reid, Ph.D., Katherine Siminovitch, M.D., Alan Shuldiner, M.D.
Udgivet i Genetics in Medicine Open (2024-01-01)