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JMIR Medical Informatics
|
September 26, 2019
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation
Patrick Wu, Aliya Gifford, Xiangrui Meng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare records
Rory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 3, 2026
Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis
Minh-Ha Nguyen, Chih-Ting Yang, Thomas A Cassini, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium
|
March 21, 2022
Mapping the Read2/CTV3 controlled clinical terminologies to Phecodes in UK Biobank primary care electronic health records: implementation and evaluation
Spiros Denaxas, Ge Liu, Qiping Feng, et al.
Journal of Women'S Health (2002)
|
June 30, 2026
Patterns of Antibiotic Utilization and Bacterial Susceptibility of Prenatal Urinary Tract Infections
Paige D Wartko, Sharon Fuller, Lisa Bastarache, et al.
Pharmacogenetics and Genomics
|
January 2, 2025
Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics
David A Roberts, Lisa Bastarache, Jing He, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
A statistical framework for evaluating the repeatability and reproducibility of large language models
Cathy Shyr, Boyu Ren, Chih-Yuan Hsu, et al.
Journal of the American Medical Informatics Association : JAMIA
|
October 15, 2019
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease
Lisa Bastarache, Jacob J Hughey, Jeffrey A Goldstein, et al.
Journal of Cellular and Molecular Medicine
|
June 1, 2022
Frequency of benign neutropenia among Black versus White individuals undergoing a bone marrow assessment
Scott C Borinstein, David Agamasu, Jonathan S Schildcrout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 17, 2020
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis
Xue Zhong, Zhijun Yin, Gengjie Jia, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 159) with videos related to
Sort By:
Page
of 16
JMIR Medical Informatics
|
September 26, 2019
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation
Patrick Wu, Aliya Gifford, Xiangrui Meng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare records
Rory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 3, 2026
Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis
Minh-Ha Nguyen, Chih-Ting Yang, Thomas A Cassini, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium
|
March 21, 2022
Mapping the Read2/CTV3 controlled clinical terminologies to Phecodes in UK Biobank primary care electronic health records: implementation and evaluation
Spiros Denaxas, Ge Liu, Qiping Feng, et al.
Journal of Women'S Health (2002)
|
June 30, 2026
Patterns of Antibiotic Utilization and Bacterial Susceptibility of Prenatal Urinary Tract Infections
Paige D Wartko, Sharon Fuller, Lisa Bastarache, et al.
Pharmacogenetics and Genomics
|
January 2, 2025
Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics
David A Roberts, Lisa Bastarache, Jing He, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
A statistical framework for evaluating the repeatability and reproducibility of large language models
Cathy Shyr, Boyu Ren, Chih-Yuan Hsu, et al.
Journal of the American Medical Informatics Association : JAMIA
|
October 15, 2019
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease
Lisa Bastarache, Jacob J Hughey, Jeffrey A Goldstein, et al.
Journal of Cellular and Molecular Medicine
|
June 1, 2022
Frequency of benign neutropenia among Black versus White individuals undergoing a bone marrow assessment
Scott C Borinstein, David Agamasu, Jonathan S Schildcrout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 17, 2020
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis
Xue Zhong, Zhijun Yin, Gengjie Jia, et al.
Page
of 16