CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. - Brian H. Shirts; Joseph S. Salama; Samuel J. Aronson; Wendy K. Chung; Stacy W. Gray; Lucia A. Hindorff; Gail P. Jarvik; Sharon E. Plon; Elena M. Stoffel; Peter Tarczy-Hornoch; Eliezer M. Van Allen; Karen E. Weck; et al. (J. Am. Medical Informatics Assoc., 2015)

Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants. - Paul R. Dexter; Henry H. Ong; Amanda Elsey; Gillian Bell; Nephi Walton; Wendy K. Chung; Luke V. Rasmussen; J. Kevin Hicks; Aniwaa Owusu-obeng; Stuart A. Scott; Stephen B. Ellis; Josh F. Peterson (AMIA, 2019)

User engagement with web-based genomics education videos and implications for designing scalable patient education materials. - Julia Wynn; Wei Wei; Xinhang Li; Yat So; Suzanne R. Bakken; Chunhua Weng; Wendy K. Chung (AMIA, 2019)

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43, 870 individuals from the eMERGE network. - Xinyuan Zhang 003; Yogasudha Veturi; Shefali Setia Verma; William Bone; Anurag Verma; Anastasia Lucas; Scott J. Hebbring; Joshua C. Denny; Ian B. Stanaway; Gail P. Jarvik; David R. Crosslin; Eric B. Larson; et al. (PSB, 2019)

ORE identifies extreme expression effects enriched for rare variants. - Felix Richter 002; Gabriel E. Hoffman; K. B. Manheimer; Nihir Patel; A J. Sharp; D. McKean; Sarah U. Morton; S. DePalma; J. Gorham; A Kitaygorodksy; George A. Porter; A Giardini; et al. (Bioinform., 2019)

Deep learning for rare disease: A scoping review. - Junghwan Lee; Cong Liu 020; Junyoung Kim; Zhehuan Chen; Yingcheng Sun; James R. Rogers; Wendy K. Chung; Chunhua Weng (J. Biomed. Informatics, 2022)

Predicting functional effect of missense variants using graph attention neural networks. - Haicang Zhang; Michelle S. Xu; Xiao Fan; Wendy K. Chung; Yufeng Shen (Nat. Mac. Intell., 2022)

SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants. - Xiao Fan; Hongbing Pan; Alan Tian; Wendy K. Chung; Yufeng Shen (Briefings Bioinform., 2023)

Promoting equity in clinical research: The role of social determinants of health. - Betina Idnay; Yilu Fang; Edward Stanley; Brenda Ruotolo; Wendy K. Chung; Karen Marder; Chunhua Weng (J. Biomed. Informatics, 2024)

Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. - Charlotte Zelin; Wendy K. Chung; Mederic Jeanne; Gongbo Zhang; Chunhua Weng (J. Biomed. Informatics, 2024)

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. - Marlee M. Vandewouw; Ami Norris-Brilliant; Anum Rahman; Stephania Assimopoulos; Sarah U. Morton; Azadeh Kushki; Sean Cunningham; Eileen King; Elizabeth Goldmuntz; Thomas A. Miller; Nina H. Thomas; Heather R. Adams; et al. (NeuroImage, 2024)

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. - Fangyi Chen; Priyanka Ahimaz; Quan M. Nguyen; Rachel Lewis; Wendy K. Chung; Casey N. Ta; Katherine M. Szigety; Sarah E. Sheppard; Ian M. Campbell; Kai Wang 049; Chunhua Weng; Cong Liu 020 (npj Digit. Medicine, 2024)

Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. - Aimiel Casillan; Michelle E. Florido; Jamie Galarza-Cornejo; Suzanne Bakken; John A Lynch; Wendy K. Chung; Kathleen F. Mittendorf; Eta S. Berner; John J. Connolly; Chunhua Weng; Ingrid A. Holm; Atlas Khan; et al. (J. Am. Medical Informatics Assoc., 2024)