Search Results - "Mcmanus, Morgan L"
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The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis
Published in American journal of medical genetics. Part A (01-12-2022)“…Telemedicine has long been considered as an attractive alternative methodology in clinical genetics to improve patient access and convenience. Given the…”
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Journal Article -
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Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up
Published in Journal of the American Medical Informatics Association : JAMIA (20-06-2023)“…Abstract Objective We sought to develop and evaluate an electronic health record (EHR) genetic testing tracking system to address the barriers and limitations…”
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Journal Article -
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TOPORS as a novel causal gene for Joubert syndrome
Published in American journal of medical genetics. Part A (01-08-2023)“…Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct…”
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Journal Article