Lisa Bastarache
Vanderbilt University
H-index: 42
North America-United States
Top articles of Lisa Bastarache
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases | Genetics in Medicine Open | Rory Tinker Lisa Bastarache Kimberly Ezell Serena Neumann Yutaka Furuta | 2024/1/1 |
Diagnostic delay in monogenic disease: a scoping review | Rory J Tinker Miles Fisher Alex F Gimeno Kayce Gill Camille Ivey | 2024/1/17 | |
Systematic replication of smoking disease associations using survey responses and EHR data in the All of Us Research Program | Journal of the American Medical Informatics Association | David J Schlueter Lina Sulieman Huan Mo Jacob M Keaton Tracey M Ferrara | 2024/1/1 |
Clinical associations with a polygenic predisposition to benign lower white blood cell counts | Nature Communications | Jonathan D Mosley John P Shelley Alyson L Dickson Jacy Zanussi Laura L Daniel | 2024/4/22 |
Data from electronic healthcare records expand our understanding of X‐linked genetic diseases | American Journal of Medical Genetics Part A | Rory J Tinker Lisa Bastarache Kimberly Ezell Serena M Neumann Yutaka Furuta | 2024/1/16 |
The Use of Electronic Health Records for Behavioral Phenotyping of School-Age Children With Unilateral Hearing Loss: A Methodological Approach | Journal of Speech, Language, and Hearing Research | Hilary Davis Leigh Anne Tang Erin M. Picou Lisa Bastarache Anne Marie Tharpe | 2024/1/8 |
Voriconazole metabolism is associated with the number of skin cancers per patient | Jacqueline I Ike Isabelle T Smith Dominique Mosley Christopher Madden Sarah Grossarth | 2024/4/19 | |
Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models | Journal of Healthcare Informatics Research | Cathy Shyr Yan Hu Lisa Bastarache Alex Cheng Rizwan Hamid | 2024/1/5 |
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant | American Journal of Medical Genetics Part A | Kimberly M Ezell Rory J Tinker Yutaka Furuta Alican Gulsevin Lisa Bastarache | 2024/3/21 |
Overcome the Limitation of Phenome-Wide Association Studies (PheWAS): Extension of PheWAS to Efficient and Robust Large-Scale ICD Codes Analysis | medRxiv | Yachen Lin Siwei Zhang Tess J Vessels Lisa Bastarache Cosmin Adrian Bejan | 2024 |
Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank | Journal of the American Medical Informatics Association | Chenjie Zeng David J Schlueter Tam C Tran Anav Babbar Thomas Cassini | 2024/1/23 |
CTLA-4 pathway is instrumental in giant cell arteritis | Circulation research | Paul Régnier Alexandre Le Joncour Anna Maciejewski-Duval Guillaume Darrasse-Jèze Charles Dolladille | 2023/8/4 |
Phenotypic convergence: a novel phenomenon in the diagnostic process of Mendelian genetic disorders | medRxiv | Rory J Tinker Josh Peterson Lisa Bastarache | 2023/1/18 |
Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records | Genetics in Medicine | Rory J Tinker Josh Peterson Lisa Bastarache | 2023/10/1 |
Genetic and clinical determinants of telomere length | Human Genetics and Genomics Advances | Patrick Allaire Jing He John Mayer Luke Moat Peter Gerstenberger | 2023/7/13 |
O52: Phenotypic convergence in the diagnostic process of Mendelian genetic disorders | Genetics in Medicine Open | Rory Tinker Josh Peterson Lisa Bastarache | 2023/1/1 |
The contribution of mosaicism to genetic diseases and de novo pathogenic variants | American Journal of Medical Genetics Part A | Rory J Tinker Lisa Bastarache Kimberly Ezell Shilpa Nadimpalli Kobren Cecilia Esteves | 2023/10 |
Knowledgebase strategies to aid interpretation of clinical correlation research | Journal of the American Medical Informatics Association | William W Stead Adam Lewis Nunzia B Giuse Taneya Y Koonce Lisa Bastarache | 2023/7/1 |
Machine‐learning based classification of Frontotemporal dementia in electronic health records for genetic discovery | Alzheimer's & Dementia | Jennifer E Below Douglas Shaw Grahame Evans James T Baker Ryan J Bohlender | 2023/12 |
The phenotype-genotype reference map: Improving biobank data science through replication | The American Journal of Human Genetics | Lisa Bastarache Sarah Delozier Anita Pandit Jing He Adam Lewis | 2023/9/7 |
