A metadata framework for computational phenotypes JAMIA open, 2023 Matthew Spotnitz, Nripendra Acharya, James J Cimino, Shawn Murphy, Bahram Namjou, Nancy Crimmins, Theresa Walunas, Cong Liu, David Crosslin, Barbara Benoit, Elisabeth Rosenthal, Jennifer A Pacheco, Anna Ostropolets, Harry Reyes Nieva, Jason S Patterson, Lauren R Richter, Tiffany J Callahan, Ahmed Elhussein, Chao Pang, Krzysztof Kiryluk, Jordan Nestor, Atlas Khan, Sumit Mohan, Evan Minty, Wendy Chung, Wei-Qi Wei, Karthik Natarajan, Chunhua Weng
Returning integrated genomic risk and clinical recommendations: The eMERGE study Genetics in Medicine, 2023 Jodell E Linder, Aimee Allworth, Sarah T Bland, Pedro J Caraballo, Rex L Chisholm, Ellen Wright Clayton, David R Crosslin, Ozan Dikilitas, Alanna DiVietro, Edward D Esplin, Sophie Forman, Robert R Freimuth, Adam S Gordon, Richard Green, Maegan V Harden, Ingrid A Holm, Gail P Jarvik, Elizabeth W Karlson, Sofia Labrecque, Niall J Lennon, Nita A Limdi, Kathleen F Mittendorf, Shawn N Murphy, Lori Orlando, Cynthia A Prows, Luke V Rasmussen, Laura Rasmussen-Torvik, Robb Rowley, Konrad Teodor Sawicki, Tara Schmidlen, Shannon Terek, David Veenstra, Digna R Velez Edwards, Devin Absher, Noura S Abul-Husn, Jorge Alsip, Hana Bangash, Mark Beasley, Jennifer E Below, Eta S Berner, James Booth, Wendy K Chung, James J Cimino, John Connolly, Patrick Davis, Beth Devine, Stephanie M Fullerton, Candace Guiducci, Melissa L Habrat, Heather Hain, Hakon Hakonarson, Margaret Harr, Eden Haverfield, Valentina Hernandez, Christin Hoell, Martha Horike-Pyne, George Hripcsak, Marguerite R Irvin, Christopher Kachulis, Dean Karavite, Eimear E Kenny, Atlas Khan, Krzysztof Kiryluk, Bruce Korf, Leah Kottyan, Iftikhar J Kullo, Katie Larkin, Cong Liu, Edyta Malolepsza, Teri A Manolio, Thomas May, Elizabeth M McNally, Frank Mentch, Alexandra Miller, Sean D Mooney, Priyanka Murali, Brenda Mutai, Naveen Muthu, Bahram Namjou, Emma F Perez, Megan J Puckelwartz, Tejinder Rakhra-Burris, Dan M Roden, Elisabeth A Rosenthal, Seyedmohammad Saadatagah, Maya Sabatello, Dan J Schaid, Baergen Schultz, Lynn Seabolt, Gabriel Q Shaibi, Richard R Sharp, Brian Shirts, Maureen E Smith, Jordan W Smoller, Rene Sterling, Sabrina A Suckiel, Jeritt Thayer, Hemant K Tiwari, Susan B Trinidad, Theresa Walunas, Wei-Qi Wei, Quinn S Wells, Chunhua Weng, Georgia L Wiesner, Ken Wiley, Adam Gordon, Agboade Sobowale, Akshar Patel, Alanna Strong, Alborz Sherafati, Alborz Sherfati, Alex Bick, Alka Chandel, Alyssa Rosenthal, Amit Khera, Amy Kontorovich, Andrew Beck, Andy Beck, Angelica Espinoza, Anna Lewis, Anya Prince, Ayuko Iverson, Bahram Namjou Khales, Barbara Benoit, Becca Hernan, Ben Kallman, Ben Kerman, Ben Shoemaker, Benjamin Satterfield, Bethany Etheridge, Blake Goff, Bob Freimuth, Bob Grundmeier, Brenae Collier, Brett Harnett, Brian Chang, Brian Piening, Brittney Davis, Candace Patterson, Carmen Demetriou, Casey Ta, Catherine Hammack, Catrina Nelson, Caytie Gascoigne, Chad Dorn, Chad Moretz, Chris Kachulis, Christie Hoell, Christine Cowles, Christoph Lange
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network Scientific Reports, 2023 Jennifer A Pacheco, Luke V Rasmussen, Ken Wiley Jr, Thomas Nate Person, David J Cronkite, Sunghwan Sohn, Shawn Murphy, Justin H Gundelach, Vivian Gainer, Victor M Castro, Cong Liu, Frank Mentch, Todd Lingren, Agnes S Sundaresan, Garrett Eickelberg, Valerie Willis, Al’ona Furmanchuk, Roshan Patel, David S Carrell, Yu Deng, Nephi Walton, Benjamin A Satterfield, Iftikhar J Kullo, Ozan Dikilitas, Joshua C Smith, Josh F Peterson, Ning Shang, Krzysztof Kiryluk, Yizhao Ni, Yikuan Li, Girish N Nadkarni, Elisabeth A Rosenthal, Theresa L Walunas, Marc S Williams, Elizabeth W Karlson, Jodell E Linder, Yuan Luo, Chunhua Weng, WeiQi Wei
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits NATURE COMMUNICATIONS, 2022 Lili Liu, Atlas Khan, Elena Sanchez-Rodriguez, Francesca Zanoni, Yifu Li, Nicholas Steers, Olivia Balderes, Junying Zhang, Priya Krithivasan, Robert A LeDesma, Clara Fischman, Scott J Hebbring, John B Harley, Halima Moncrieffe, Leah C Kottyan, Bahram Namjou-Khales, Theresa L Walunas, Rachel Knevel, Soumya Raychaudhuri, Elizabeth W Karlson, Joshua C Denny, Ian B Stanaway, David Crosslin, Thomas Rauen, Juergen Floege, Frank Eitner, Zina Moldoveanu, Colin Reily, Barbora Knoppova, Stacy Hall, Justin T Sheff, Bruce A Julian, Robert J Wyatt, Hitoshi Suzuki, Jingyuan Xie, Nan Chen, Xujie Zhou, Hong Zhang, Lennart Hammarstroem, Alexander Viktorin, Patrik KE Magnusson, Ning Shang, George Hripcsak, Chunhua Weng, Tatjana Rundek, Mitchell SV Elkind, Elizabeth C Oelsner, R Graham Barr, Iuliana Ionita-Laza, Jan Novak, Ali G Gharavi, Krzysztof Kiryluk
Characterizing variability of electronic health record-driven phenotype definitions Journal of the American Medical Informatics Association, 2022 Pascal S Brandt, Abel Kho, Yuan Luo, Jennifer A Pacheco, Theresa L Walunas, Hakon Hakonarson, George Hripcsak, Cong Liu, Ning Shang, Chunhua Weng, Nephi Walton, David S Carrell, Paul K Crane, Eric B Larson, Christopher G Chute, Iftikhar J Kullo, Robert Carroll, Josh Denny, Andrea Ramirez, Wei-Qi Wei, Jyoti Pathak, Laura K Wiley, Rachel Richesson, Justin B Starren, Luke V Rasmussen
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics Obesity, 2022 Jamie R. Robinson, Robert J. Carroll, Lisa Bastarache, Qingxia Chen, James Pirruccello, Zongyang Mou, Wei-Qi Wei, John Connolly, Frank Mentch, Paul K. Crane, Scott J. Hebbring, David R. Crosslin, Adam S. Gordon, Elisabeth A. Rosenthal, Ian B. Stanaway, M. Geoffrey Hayes, Wei Wei, Lynn Petukhova, Bahram Namjou-Khales, Ge Zhang, Mayya S. Safarova, Nephi A. Walton, Christopher Still, Erwin P. Bottinger, Ruth J. F. Loos, Shawn N. Murphy, Gretchen P. Jackson, Naji Abumrad, Iftikhar J. Kullo, Gail P. Jarvik, Eric B. Larson, Chunhua Weng, Dan Roden, Amit V. Khera, Joshua C. Denny
Genomic Disorders in Chronic Kidney Disease Across the Lifespan Journal of the American Society of Nephrology, 2022 Miguel Verbitsky, Sarathbabu Krishnamurthy, Priya Krithivasan, Daniel Hughes, Atlas Khan, Maddalena Marasà, Natalie Vena, Pavan Khosla, Junying Zhang, Tze Y Lim, Joseph T Glessner, Chunhua Weng, Ning Shang, Yufeng Shen, George Hripcsak, Hakon Hakonarson, Iuliana Ionita-Laza, Brynn Levy, Eimear E Kenny, Ruth J F Loos, Krzysztof Kiryluk, Simone Sanna-Cherchi, David R Crosslin, Susan Furth, Bradley A Warady, Robert P Igo Jr, Sudha K Iyengar, Craig S Wong, Afshin Parsa, Harold I Feldman, Ali G Gharavi
Deep Learning for Rare Disease: A Scoping Review Journal of Biomedical Informatics, 2022 Junghwan Lee, Cong Liu, Junyoung Kim, Zhehuan Chen, Yingcheng Sun, James R. Rogers, Wendy K. Chung, Chunhua Weng
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science Clinical and translational science, 2022 Deepak R. Unni; Sierra A. T. Moxon; Michael Bada; Matthew Brush; Richard Bruskiewich; J. Harry Caufield; Paul A. Clemons; Vlado Dancik; Michel Dumontier; Karamarie Fecho; Gustavo Glusman; Jennifer J. Hadlock; Nomi L. Harris; Arpita Joshi; Tim Putman; Guangrong Qin; Stephen A. Ramsey; Kent A. Shefchek; Harold Solbrig; Karthik Soman; Anne E. Thessen; Melissa A. Haendel; Chris Bizon; Christopher J. Mungall; Liliana Acevedo; Stanley C. Ahalt; John Alden; Ahmed Alkanaq; Nada Amin; Ricardo Avila; Jim Balhoff; Sergio E. Baranzini; Andrew Baumgartner; William Baumgartner; Basazin Belhu; MacKenzie Brandes; Namdi Brandon; Noel Burtt; William Byrd; Jackson Callaghan; Marco Alvarado Cano; Steven Carrell; Remzi Celebi; James Champion; Zhehuan Chen; Mei‐Jan Chen; Lawrence Chung; Kevin Cohen; Tom Conlin; Dan Corkill; Maria Costanzo; Steven Cox; Andrew Crouse; Camerron Crowder; Mary E. Crumbley; Cheng Dai; Vlado Dančík; Ricardo De Miranda Azevedo; Eric Deutsch; Jennifer Dougherty; Marc P. Duby; Venkata Duvvuri; Stephen Edwards; Vincent Emonet; Nathaniel Fehrmann; Jason Flannick; Aleksandra M. Foksinska; Vicki Gardner; Edgar Gatica; Amy Glen; Prateek Goel; Joseph Gormley; Alon Greyber; Perry Haaland; Kristina Hanspers; Kaiwen He; Kaiwen He; Jeff Henrickson; Eugene W. Hinderer; Maureen Hoatlin; Andrew Hoffman; Sui Huang; Conrad Huang; Robert Hubal; Kenneth Huellas‐Bruskiewicz; Forest B. Huls; Lawrence Hunter; Greg Hyde; Tursynay Issabekova; Matthew Jarrell; Lindsay Jenkins; Adam Johs; Jimin Kang; Richa Kanwar; Yaphet Kebede; Keum Joo Kim; Alexandria Kluge; Michael Knowles; Ryan Koesterer; Daniel Korn; David Koslicki; Ashok Krishnamurthy; Lindsey Kvarfordt; Jay Lee; Margaret Leigh; Jason Lin; Zheng Liu; Shaopeng Liu; Chunyu Ma; Andrew Magis; Tarun Mamidi; Meisha Mandal; Michelle Mantilla; Jeffrey Massung; Denise Mauldin; Jason McClelland; Julie McMurry; Philip Mease; Luis Mendoza; Marian Mersmann; Abrar Mesbah; Matthew Might; Kenny Morton; Sandrine Muller; Arun Teja Muluka; John Osborne; Phil Owen; Michael Patton; David B. Peden; R. Carter Peene; Bria Persaud; Emily Pfaff; Alexander Pico; Elizabeth Pollard; Guthrie Price; Shruti Raj; Jason Reilly; Anders Riutta; Jared Roach; Ryan T. Roper; Greg Rosenblatt; Irit Rubin; Sienna Rucka; Nathaniel Rudavsky‐Brody; Rayn Sakaguchi; Eugene Santos; Kevin Schaper; Charles P. Schmitt; Shepherd Schurman; Erik Scott; Sarah Seitanakis; Priya Sharma; Ilya Shmulevich; Manil Shrestha; Shalki Shrivastava; Meghamala Sinha; Brett Smith; Noel Southall; Nicholas Southern; Lisa Stillwell; Michael " Michi" Strasser; Andrew I. Su; Casey Ta; Anne E. Thessen; Jillian Tinglin; Lucas Tonstad; Thi Tran‐Nguyen; Alexander Tropsha; Gaurav Vaidya; Luke Veenhuis; Adam Viola; Marcin Grotthuss; Max Wang; Patrick Wang; Paul B. Watkins; Rosina Weber; Qi Wei; Chunhua Weng; Jordan Whitlock; Mark D. Williams; Andrew Williams; Finn Womack; Erica Wood; Chunlei Wu; Jiwen Kevin Xin; Hao Xu; Colleen Xu; Chase Yakaboski; Yao Yao; Hong Yi; Arif Yilmaz; Marissa Zheng; Xinghua Zhou; Eric Zhou; Qian Zhu; Tom Zisk; The Biomedical Data Translator Consortium
A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources Journal of the American Medical Informatics Association, 2022 Ken Wiley; Laura Findley; Madison Goldrich; Tejinder K Rakhra-Burris; Ana Stevens; Pamela Williams; Carol J Bult; Rex Chisholm; Patricia Deverka; Geoffrey S Ginsburg; Eric D Green; Gail Jarvik; George A Mensah; Erin Ramos; Mary V Relling; Dan M Roden; Robb Rowley; Gil Alterovitz; Samuel Aronson; Lisa Bastarache; James J Cimino; Erin L Crowgey; Guilherme Del Fiol; Robert R Freimuth; Mark A Hoffman; Janina Jeff; Kevin Johnson; Kensaku Kawamoto; Subha Madhavan; Eneida A Mendonca; Lucila Ohno-Machado; Siddharth Pratap; Casey Overby Taylor; Marylyn D Ritchie; Nephi Walton; Chunhua Weng; Teresa Zayas-Cabán; Teri A Manolio; Marc S Williams
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases JAMA oncology, 2022 Chenjie Zeng; Lisa A Bastarache; Ran Tao; Eric Venner; Scott Hebbring; Justin D Andujar; Sarah T Bland; David R Crosslin; Siddharth Pratap; Ayorinde Cooley; Jennifer A Pacheco; Kurt D Christensen; Emma Perez; Carrie L Blout Zawatsky; Leora Witkowski; Hana Zouk; Chunhua Weng; Kathleen A Leppig; Patrick M A Sleiman; Hakon Hakonarson; Marc S Williams; Yuan Luo; Gail P Jarvik; Robert C Green; Wendy K Chung; Ali G Gharavi; Niall J Lennon; Heidi L Rehm; Richard A Gibbs; Josh F Peterson; Dan M Roden; Georgia L Wiesner; Joshua C Denny
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions BMC Medical Informatics and Decision Making, 2022 Jingzhi Yu; Jennifer A Pacheco; Anika S Ghosh; Yuan Luo; Chunhua Weng; Ning Shang; Barbara Benoit; David S Carrell; Robert J Carroll; Ozan Dikilitas; Robert R Freimuth; Vivian S Gainer; Hakon Hakonarson; George Hripcsak; Iftikhar J Kullo; Frank Mentch; Shawn N Murphy; Peggy L Peissig; Andrea H Ramirez; Nephi Walton; Wei-Qi Wei; Luke V Rasmussen
Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study Circulation, 2022 Andrew M Glazer; Giovanni Davogustto; Christian M Shaffer; Carlos G Vanoye; Reshma R Desai; Eric H Farber-Eger; Ozan Dikilitas; Ning Shang; Jennifer A Pacheco; Tao Yang; Ayesha Muhammad; Jonathan D Mosley; Sara L Van Driest; Quinn S Wells; Lauren Lee Shaffer; Olivia R Kalash; Yuko Wada; Sarah Bland; Zachary T Yoneda; Devyn W Mitchell; Brett M Kroncke; Iftikhar J Kullo; Gail P Jarvik; Adam S Gordon; Eric B Larson; Teri A Manolio; Tooraj Mirshahi; Jonathan Z Luo; Daniel Schaid; Bahram Namjou; Tarek Alsaied; Rajbir Singh; Ashutosh Singhal; Cong Liu; Chunhua Weng; George Hripcsak; James D Ralston; Elizabeth M McNally; Wendy K Chung; David S Carrell; Kathleen A Leppig; Hakon Hakonarson; Patrick Sleiman; Sunghwan Sohn; Joseph Glessner; eMERGE Network; Joshua Denny; Wei-Qi Wei; Alfred L George Jr; M Benjamin Shoemaker; Dan M Roden
2021
Generalizability of polygenic risk scores for breast cancer among women with European, African, and Latinx ancestry JAMA Network Open, 2021 Cong Liu; Nur Zeinomar; Wendy K Chung; Krzysztof Kiryluk; Ali G Gharavi; George Hripcsak; Katherine D Crew; Ning Shang; Atlas Khan; David Fasel; Teri A Manolio; Gail P Jarvik; Robb Rowley; Ann E Justice; Alanna K Rahm; Stephanie M Fullerton; Jordan W Smoller; Eric B Larson; Paul K Crane; Ozan Dikilitas; Georgia L Wiesner; Alexander G Bick; Mary Beth Terry; Chunhua Weng
Genome-wide polygenic score with APOL1 risk genotypes predicts chronic kidney disease across major continental ancestries medRxiv, 2021 Atlas Khan; Michael C. Turchin; Amit Patki; Vinodh Srinivasasainagendra; Ning Shang; Rajiv Nadukuru; Alana C. Jones; Edyta Malolepsza; Ozan Dikilitas; Iftikhar J. Kullo; Daniel J. Schaid; Elizabeth Karlson; Tian Ge; James B. Meigs; Jordan W. Smoller; Christoph Lange; David R. Crosslin; Gail Jarvik; Pavan Bhatraju; Jacklyn N. Hellwege; Paulette Chandler; Laura Rasmussen Torvik; Alex Fedotov; Cong Liu; Christopher Kachulis; Noura S. Abul-Husn; Judy H. Cho; Iuliana Ionita-Laza; Ali G. Gharavi; Wendy K. Chung; George Hripcsak; Chunhua Weng; Girish Nadkarni; Marguerite R. Irvin; Hemant K. Tiwari; Eimear E. Kenny; Nita A. Limdi; Krzysztof Kiryluk
Medical records-based genetic studies of the complement system Journal of the American Society of Nephrology, 2021 Atlas Khan; Ning Shang; Lynn Petukhova; Jun Zhang; Yufeng Shen; Scott J Hebbring; Halima Moncrieffe; Leah C Kottyan; Bahram Namjou-Khales; Rachel Knevel; Soumya Raychaudhuri; Elizabeth W Karlson; John B Harley; Ian B Stanaway; David Crosslin; Joshua C Denny; Mitchell S V Elkind; Ali G Gharavi; George Hripcsak; Chunhua Weng; Krzysztof Kiryluk
Loci identified by a genome‐wide association study of carotid artery stenosis in the eMERGE network Genetic epidemiology, 2021 Melody R Palmer; Daniel S Kim; David R Crosslin; Ian B Stanaway; Elisabeth A Rosenthal; David S Carrell; David J Cronkite; Adam Gordon; Xiaomeng Du; Yatong K Li; Marc S Williams; Chunhua Weng; Qiping Feng; Rongling Li; Sarah A Pendergrass; Hakon Hakonarson; David Fasel; Sunghwan Sohn; Patrick Sleiman; Samuel K Handelman; Elizabeth Speliotes; Iftikhar J Kullo; Eric B Larson; eMERGE Consortium; Gail P Jarvik
Neptune: an environment for the delivery of genomic medicine Genetics in Medicine, 2021 Venner Eric; Victoria Yi; David Murdock; Sara E Kalla; Tsung-Jung Wu; Aniko Sabo; Shoudong Li; Qingchang Meng; Xia Tian; Mullai Murugan; Michelle Cohen; Christie Kovar; Wei-Qi Wei; Wendy K Chung; Chunhua Weng; Georgia L Wiesner; Gail P Jarvik; Donna Muzny; Richard A Gibbs; eMERGE Consortium
The COVID-19 trial finder Journal of the American Medical Informatics Association, 2021 Yingcheng Sun; Alex Butler; Fengyang Lin; Hao Liu; Latoya A Stewart; Jae Hyun Kim; Betina Ross S Idnay; Qingyin Ge; Xinyi Wei; Cong Liu; Chi Yuan; Chunhua Weng
Charting the life course: Emerging opportunities to advance scientific approaches using life course research Journal of clinical and translational science, 2021 Heidi A Hanson; Claire L Leiser; Gretchen Bandoli; Brad H Pollock; Margaret R Karagas; Daniel Armstrong; Ann Dozier; Nicole G Weiskopf; Maureen Monaghan; Ann M Davis; Elizabeth Eckstrom; Chunhua Weng; Jonathan N Tobin; Frederick Kaskel; Mark R Schleiss; Peter Szilagyi; Carrie Dykes; Dan Cooper; Shari L Barkin
Penetrance of breast cancer susceptibility genes from the eMERGE III Network JNCI Cancer Spectrum, 2021 Xiao Fan; Julia Wynn; Ning Shang; Cong Liu; Alexander Fedotov; Miranda L G Hallquist; Adam H Buchanan; Marc S Williams; Maureen E Smith; Christin Hoell; Laura J Rasmussen-Torvik; Josh F Peterson; Georgia L Wiesner; Andrea M Murad; Gail P Jarvik; Adam S Gordon; Elisabeth A Rosenthal; Ian B Stanaway; David R Crosslin; Eric B Larson; Kathleen A Leppig; Nora B Henrikson; Janet L Williams; Rongling Li; Scott Hebbring; Chunhua Weng; Yufeng Shen; Katherine D Crew; Wendy K Chung
Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies NPJ digital medicine, 2021 Ning Shang; Atlas Khan; Fernanda Polubriaginof; Francesca Zanoni; Karla Mehl; David Fasel; Paul E Drawz; Robert J Carrol; Joshua C Denny; Matthew A Hathcock; Adelaide M Arruda-Olson; Peggy L Peissig; Richard A Dart; Murray H Brilliant; Eric B Larson; David S Carrell; Sarah Pendergrass; Shefali Setia Verma; Marylyn D Ritchie; Barbara Benoit; Vivian S Gainer; Elizabeth W Karlson; Adam S Gordon; Gail P Jarvik; Ian B Stanaway; David R Crosslin; Sumit Mohan; Iuliana Ionita-Laza; Nicholas P Tatonetti; Ali G Gharavi; George Hripcsak; Chunhua Weng; Krzysztof Kiryluk
Penetrance of breast cancer genes from the eMERGE III Network medRxiv, 2021 Xiao Fan; Julia Wynn; Ning Shang; Cong Liu; Alexander Fedotov; Miranda L G Hallquist; Adam H Buchanan; Marc S Williams; Maureen E Smith; Christin Hoell; Laura J Rasmussen-Torvik; Josh F Peterson; Georgia L Wiesner; Andrea M Murad; Gail P Jarvik; Adam S Gordon; Elisabeth A Rosenthal; Ian B Stanaway; David R Crosslin; Eric B Larson; Kathleen A Leppig; Nora B Henrikson; Janet L Williams; Rongling Li; Scott Hebbring; Chunhua Weng; Yufeng Shen; Katherine D Crew; Wendy K Chung
A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes medRxiv, 2021 Chenjie Zeng; Lisa A. Bastarache; Ran Tao; Eric Venner; Scott Hebbring; Justin D. Andujar; Sarah T. Bland; ProfileDavid R. Crosslin; Siddharth Pratap; Ayorinde Cooley; Jennifer A. Pacheco; Kurt D. Christensen; Emma Perez; Carrie L. Blout Zawatsky; Leora Witkowski; Hana Zouk; Chunhua Weng; Kathleen A. Leppig; Patrick M. A. Sleiman; Hakon Hakonarson; Marc. S. Williams; Yuan Luo; Gail P. Jarvik; Robert C. Green; Wendy K. Chung; Ali G. Gharavi; Niall J. Lennon; Heidi L. Rehm; Richard A. Gibbs; Josh F. Peterson; Dan M. Roden; Georgia L. Wiesner; Joshua C. Denny
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project Nature Reviews Nephrology, 2020 Edison Ong; Lucy L Wang; Jennifer Schaub; John F O'Toole; Becky Steck; Avi Z Rosenberg; Frederick Dowd; Jens Hansen; Laura Barisoni; Sanjay Jain; Ian H de Boer; M Todd Valerius; Sushrut S Waikar; Christopher Park; Dana C Crawford; Theodore Alexandrov; Christopher R Anderton; Christian Stoeckert; Chunhua Weng; Alexander D Diehl; Christopher J Mungall; Melissa Haendel; Peter N Robinson; Jonathan Himmelfarb; Ravi Iyengar; Matthias Kretzler; Sean Mooney; Yongqun He; Kidney Precision Medicine Project
Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study medRxiv, 2020 Cong Liu; Nur Zeinomar; Wendy K. Chung; Krzysztof Kiryluk; Ali G. Gharavi; George Hripcsak; Katherine D. Crew; Ning Shang; Atlas Khan; David Fasel; Teri A. Manolio; Gail P. Jarvik; Robb Rowley; Ann E. Justice; Alanna K. Rahm; Stephanie M. Fullerton; Jordan W. Smoller; Eric B. Larson; Paul K. Crane; Ozan Dikilitas; Georgia L. Wiesner; Alexander G. Bick; Mary Beth Terry; Chunhua Weng
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity Human mutation, 2020 Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Stefan G. Piatek; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E. Posey; Elizabeth E. Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amali Mallawaarachchi; Julie Vogt; Sonja A. Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R. Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L. Waugh; Laurence Faivre; Jean-Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J. Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F. Buckley; Paul R. Mark; Lesley C. Adès; Sarah A. Sandaradura; James R. Lupski; Tony Roscioli; Pankaj B. Agrawal; Antonie D. Kline; Kai Wang; H. T. Marc Timmers; Gholson J. Lyon
Association of genetic risk of obesity with postoperative complications using Mendelian randomization World journal of surgery, 2020 Jamie R Robinson; Robert J Carroll; Lisa Bastarache; Qingxia Chen; Zongyang Mou; Wei-Qi Wei; John J Connolly; Frank Mentch; Patrick Sleiman; Paul K Crane; Scott J Hebbring; Ian B Stanaway; David R Crosslin; Adam S Gordon; Elisabeth A Rosenthal; David Carrell; M Geoffrey Hayes; Wei Wei; Lynn Petukhova; Bahram Namjou; Ge Zhang; Maya S Safarova; Nephi A Walton; Christopher Still; Erwin P Bottinger; Ruth J F Loos; Shawn N Murphy; Gretchen P Jackson; Iftikhar J Kullo; Hakon Hakonarson; Gail P Jarvik; Eric B Larson; Chunhua Weng; Dan M Roden; Joshua C Denny
Harmonizing outcomes for genomic medicine: comparison of eMERGE outcomes to ClinGen outcome/intervention pairs The Road from Nanomedicine to Precision Medicine, 2020 Janet L Williams; Wendy K Chung; Alex Fedotov; Krzysztof Kiryluk; Chunhua Weng; John J Connolly; Margaret Harr; Hakon Hakonarson; Kathleen A Leppig; Eric B Larson; Gail P Jarvik; David L Veenstra; Christin Hoell; Maureen E Smith; Ingrid A Holm; Josh F Peterson; Marc S Williams
Characterizing database granularity using SNOMED-CT hierarchy AMIA Annual Symposium Proceedings, 2020 Anna Ostropolets; Christian Reich; Patrick Ryan; Chunhua Weng; Anthony Molinaro; Frank DeFalco; Jitendra Jonnagaddala; Siaw-Teng Liaw; Hokyun Jeon; Rae Woong Park; Matthew E Spotnitz; Karthik Natarajan; George Argyriou; Kristin Kostka; Robert Miller; Andrew Williams; Evan Minty; Jose Posada; George Hripcsak
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study Genetics in Medicine, 2019 Hila Milo Rasouly; Julia Wynn; Maddalena Marasa; Rachel Reingold; Debanjana Chatterjee; Sheena Kapoor; Stacy Piva; Byum Hee Kil; Xueru Mu; Maria Alvarez; Jordan Nestor; Karla Mehl; Anya Revah-Politi; Natalie Lippa; Michelle E Ernst; Louise Bier; Aileen Espinal; Bianca Haser; Anoushka Sinha; Ian Halim; David Fasel; Nicole Cuneo; Jacqueline J Thompson; Miguel Verbitsky; Elizabeth G Cohn; Jill Goldman; Karen Marder; Robert L Klitzman; Manuela A Orjuela; Yat S So; Alex Fedotov; Katherine D Crew; Krzysztof Kiryluk; Paul S Appelbaum; Chunhua Weng; Karolynn Siegel; Ali G Gharavi; Wendy K Chung
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network Journal of biomedical informatics, 2019 Ning Shang; Cong Liu; Luke V Rasmussen; Casey N Ta; Robert J Caroll; Barbara Benoit; Todd Lingren; Ozan Dikilitas; Frank D Mentch; David S Carrell; Wei-Qi Wei; Yuan Luo; Vivian S Gainer; Iftikhar J Kullo; Jennifer A Pacheco; Hakon Hakonarson; Theresa L Walunas; Joshua C Denny; Ken Wiley; Shawn N Murphy; George Hripcsak; Chunhua Weng
Diagnostic utility of exome sequencing for kidney disease New England Journal of Medicine, 2019 Emily E. Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S. Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H. Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A. Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B. Appel; Andrew S. Bomback; Wooin Ahn; Natalie S. Uy; Shumyle Alam; David J. Cohen; Russell J. Crew; Geoffrey K. Dube; Maya K. Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D. Malone; Caroline M. Mebane; Neha Dagaonkar; Bengt C. Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; an Fleckner; Ruth March; Adam Platt; David B. Goldstein; Ali G. Gharavi
Facilitating phenotype transfer using a common data model Journal of biomedical informatics, 2019 George Hripcsak; Ning Shang; Peggy L Peissig; Luke V Rasmussen; Cong Liu; Barbara Benoit; Robert J Carroll; David S Carrell; Joshua C Denny; Ozan Dikilitas; Vivian S Gainer; Kayla Marie Howell; Jeffrey G Klann; Iftikhar J Kullo; Todd Lingren; Frank D Mentch; Shawn N Murphy; Karthik Natarajan; Jennifer A Pacheco; Wei-Qi Wei; Ken Wiley; Chunhua Weng
Clinical data: sources and types, regulatory constraints, applications Clinical and translational science, 2019 Stanley C Ahalt; Christopher G Chute; Karamarie Fecho; Gustavo Glusman; Jennifer Hadlock; Casey Overby Taylor; Emily R Pfaff; Peter N Robinson; Harold Solbrig; Casey Ta; Nicholas Tatonetti; Chunhua Weng; Biomedical Data Translator Consortium
Harmonizing clinical sequencing and interpretation for the eMERGE III network The American Journal of Human Genetics, 2019 eMERGE Consortium; Hana Zouk; Eric Venner; Niall J Lennon; Donna M Muzny; Debra Abrams; Samuel Adunyah; Ladia Albertson-Junkans; Darren C Ames; Paul Appelbaum; Samuel Aronson; Sharon Aufox; Lawrence J Babb; Adithya Balasubramanian; Hana Bangash; Melissa Basford; Lisa Bastarache; Samantha Baxter; Meckenzie Behr; Barbara Benoit; Elizabeth Bhoj; Suzette J Bielinski; Sarah T Bland; Carrie Blout; Kenneth Borthwick; Erwin P Bottinger; Mark Bowser; Harrison Brand; Murray Brilliant; Wendy Brodeur; Pedro Caraballo; David Carrell; Andrew Carroll; Berta Almoguera; Lisa Castillo; Victor Castro; Gauthami Chandanavelli; Theodore Chiang; Rex L Chisholm; Kurt D Christensen; Wendy Chung; Christopher G Chute; Brittany City; Beth L Cobb; John J Connolly; Paul Crane; Katherine Crew; David Crosslin; Mariza De Andrade; Jessica De la Cruz; Shawn Denson; Josh Denny; Tim DeSmet; Ozan Dikilitas; Christopher Friedrich; Stephanie M Fullerton; Birgit Funke; Stacey Gabriel; Vivian Gainer; Ali Gharavi; Andrew M Glazer; Joseph T Glessner; Jessica Goehringer; Adam S Gordon; Chet Graham; Robert C Green; Justin H Gundelach; Jyoti Dayal; Heather S Hain; Hakon Hakonarson; Maegan V Harden; John Harley; Margaret Harr; Andrea Hartzler; M Geoffrey Hayes; Scott Hebbring; Nora Henrikson; Andrew Hershey; Christin Hoell; Ingrid Holm; Kayla M Howell; George Hripcsak; Jianhong Hu; Gail P Jarvik; Joy C Jayaseelan; Yunyun Jiang; Yoonjung Yoonie Joo; Sheethal Jose; Navya Shilpa Josyula; Anne E Justice; Sara E Kalla; Divya Kalra; Elizabeth Karlson; Melissa A Kelly; Brendan J Keating; Eimear E Kenny; Dustin Key; Krzysztof Kiryluk; Terrie Kitchner; Barbara Klanderman; Eric Klee; David C Kochan; Viktoriya Korchina; Leah Kottyan; Christie Kovar; Emily Kudalkar; Iftikhar J Kullo; Philip Lammers; Eric B Larson; Matthew S Lebo; Magalie Leduc; Ming Ta Michael Lee; Kathleen A Leppig; Nancy D Leslie; Rongling Li; Wayne H Liang; Chiao-Feng Lin; Jodell Linder; Noralane M Lindor; Todd Lingren; James G Linneman; Cong Liu; Wen Liu; Xiuping Liu; John Lynch; Hayley Lyon; Alyssa Macbeth; Harshad Mahadeshwar; Lisa Mahanta; Brad Malin; Teri Manolio; Maddalena Marasa; Keith Marsolo; Michael J Dinsmore; Sheila Dodge; Elizabeth Duffy Hynes; Phil Dunlea; Todd L Edwards; Christine M Eng; David Fasel; Alex Fedotov; Qiping Feng; Mark Fleharty; Andrea Foster; Robert Freimuth; Michelle L McGowan; Elizabeth McNally; Jim Meldrim; Frank Mentch; Jonathan Mosley; Shubhabrata Mukherjee; Thomas E Mullen; Jesse Muniz; David R Murdock; Shawn Murphy; Mullai Murugan; Melanie F Myers; Bahram Namjou; Yizhao Ni; Aniwaa Owusu Obeng; Robert C Onofrio; Casey Overby Taylor; Thomas N Person; Josh F Peterson; Lynn Petukhova; Cassandra J Pisieczko; Siddharth Pratap; Cynthia A Prows; Megan J Puckelwartz; Alanna Kulchak Rahm; Ritika Raj; James D Ralston; Arvind Ramaprasan; Andrea Ramirez; Luke Rasmussen; Laura Rasmussen-Torvik; Hila Milo Rasouly; Soumya Raychaudhuri; Marylyn D Ritchie; Catherine Rives; Beenish Riza; Dan Roden; Elisabeth A Rosenthal; Avni Santani; Dan Schaid; Steven Scherer; Stuart Scott; Aaron Scrol; Soumitra Sengupta; Ning Shang; Himanshu Sharma; Richard R Sharp; Rajbir Singh; Patrick M A Sleiman; Kara Slowik; Joshua C Smith; Maureen E Smith; Jordan W Smoller; Sunghwan Sohn; Ian B Stanaway; Justin Starren; Mary Stroud; Jessica Su; Kasia Tolwinski; Sara L Van Driest; Sean M Vargas; Matthew Varugheese; David Veenstra; Miguel Verbitsky; Gina Vicente; Michael Wagner; Kimberly Walker; Theresa Walunas; Liwen Wang; Qiaoyan Wang; Wei-Qi Wei; Scott T Weiss; Georgia L Wiesner; Quinn Wells; Chunhua Weng; Peter S White; Ken L Wiley Jr; Janet L Williams; Marc S Williams; Michael W Wilson; Leora Witkowski; Laura Allison Woods; Betty Woolf; Tsung-Jung Wu; Julia Wynn; Yaping Yang; Victoria Yi; Ge Zhang; Lan Zhang; Heidi L Rehm; Richard A Gibbs
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study Genetics in Medicine, 2019 Hila Milo Rasouly; Julia Wynn; Maddalena Marasa; Rachel Reingold; Debanjana Chatterjee; Sheena Kapoor; Stacy Piva; Byum Hee Kil; Xueru Mu; Maria Alvarez; Jordan Nestor; Karla Mehl; Anya Revah-Politi; Natalie Lippa; Michelle E Ernst; Louise Bier; Aileen Espinal; Bianca Haser; Anoushka Sinha; Ian Halim; David Fasel; Nicole Cuneo; Jacqueline J Thompson; Miguel Verbitsky; Elizabeth G Cohn; Jill Goldman; Karen Marder; Robert L Klitzman; Manuela A Orjuela; Yat S So; Alex Fedotov; Katherine D Crew; Krzysztof Kiryluk; Paul S Appelbaum; Chunhua Weng; Karolynn Siegel; Ali G Gharavi; Wendy K Chung
The ranking of scientists. Journal of Biomedical Informatics, 2018 Chunhua Weng; Andrew Goldstein; Chi Yuan; Zhiping Zhou
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example Journal of the American Medical Informatics Association, 2018 Samuel Aronson; Lawrence Babb; Darren Ames; Richard A Gibbs; Eric Venner; John J Connelly; Keith Marsolo; Chunhua Weng; Marc S Williams; Andrea L Hartzler; Wayne H Liang; James D Ralston; Emily Beth Devine; Shawn Murphy; Christopher G Chute; Pedro J Caraballo; Iftikhar J Kullo; Robert R Freimuth; Luke V Rasmussen; Firas H Wehbe; Josh F Peterson; Jamie R Robinson; Ken Wiley; Casey Overby Taylor; eMERGE Network EHRI Working Group
Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes The American Journal of Human Genetics, 2018 Jung Hoon Son; Gangcai Xie; Chi Yuan; Lyudmila Ena; Ziran Li; Andrew Goldstein; Lulin Huang; Liwei Wang; Feichen Shen; Hongfang Liu; Karla Mehl; Emily E Groopman; Maddalena Marasa; Krzysztof Kiryluk; Ali G Gharavi; Wendy K Chung; George Hripcsak; Carol Friedman; Chunhua Weng; Kai Wang
Practical considerations in genomic decision support: The eMERGE experience Journal of pathology informatics, 2015 Timothy M Herr; Suzette J Bielinski; Erwin Bottinger; Ariel Brautbar; Murray Brilliant; Christopher G Chute; Beth L Cobb; Joshua C Denny; Hakon Hakonarson; Andrea L Hartzler; George Hripcsak; Joseph Kannry; Isaac S Kohane; Iftikhar J Kullo; Simon Lin; Shannon Manzi; Keith Marsolo; Casey Lynnette Overby; Jyotishman Pathak; Peggy Peissig; Jill Pulley; James Ralston; Luke Rasmussen; Dan M Roden; Gerard Tromp; Timothy Uphoff; Chunhua Weng; Wendy Wolf; Marc S Williams; Justin Starren
Opportunities for genomic clinical decision support interventions Genetics in Medicine, 2013 Casey Lynnette Overby; Isaac Kohane; Joseph L Kannry; Marc S Williams; Justin Starren; Erwin Bottinger; Omri Gottesman; Joshua C Denny; Chunhua Weng; Peter Tarczy-Hornoch; George Hripcsak