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
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits medRxiv, 2021 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; Jürgen 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 Hammarström; Alexander Viktorin; Patrik K. E. Magnusson; Ning Shang; George Hripcsak; Chunhua Weng; Tatjana Rundek; Mitchell S. V. Elkind; Elizabeth C. Oelsner; R. Graham Barr; Iuliana Ionita-Laza; Jan Novak; Ali G. Gharavi; Krzysztof Kiryluk
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