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Medrxiv : the Preprint Server for Health Sciences|January 16, 2026
Developing a phenotype risk score for <i>TTR</i> V142I to capture undiagnosed variant transthyretin amyloidosis in health systemsDeepa Sarkar, Kathleen D Ferar, Mohammad Ghouse Syed, et al.
BMC Medical Informatics and Decision Making|January 7, 2023
Predicting decompression surgery by applying multimodal deep learning to patients' structured and unstructured health dataChethan Jujjavarapu, Pradeep Suri, Vikas Pejaver, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Biorxiv : the Preprint Server for Biology|July 14, 2025
Gene-based calibration of high-throughput functional assays for clinical variant classificationDaniel Zeiberg, Malvika Tejura, Abbye E McEwen, et al.
JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|January 7, 2023
Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic AncestriesStephanie M Rutledge, Emily R Soper, Ning Ma, et al.
Bioinformatics (Oxford, England)|September 9, 2017
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variantsKymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic <i>TTR</i> carriersAmit Weigman, Wenli Zhao, Steve L Liao, et al.
Research Square|May 18, 2026
Gene- and domain-aware calibration increases the clinical utility of variant effect predictorsYile Chen, Vikas Pejaver, Shawn Fayer, et al.
Elife|June 13, 2020
A survey-based analysis of the academic job marketJason D Fernandes, Sarvenaz Sarabipour, Christopher T Smith, et al.
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