Search Results - "Eng, Lucy S"

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths by Wang, Dawei, Shah, Krunal R, Um, Sung Yon, Eng, Lucy S, Zhou, Bo, Lin, Ying, Mitchell, Adele A, Nicaj, Leze, Prinz, Mechthild, McDonald, Thomas V, Sampson, Barbara A, Tang, Yingying

“…Abstract Sudden unexplained deaths (SUD) in apparently healthy individuals, for which the causes of deaths remained undetermined after comprehensive forensic…”
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Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths by Lin, Ying, Williams, Nori, Wang, Dawei, Coetzee, William, Zhou, Bo, Eng, Lucy S, Um, Sung Yon, Bao, Ruijun, Devinsky, Orrin, McDonald, Thomas V, Sampson, Barbara A, Tang, Yingying

“…Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant…”
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Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism by Halvorsen, Matt, Lin, Ying, Sampson, Barbara A., Wang, Dawei, Zhou, Bo, Eng, Lucy S., Um, Sung Yon, Devinsky, Orrin, Goldstein, David B., Tang, Yingying

“…Acute unprovoked idiopathic fatal pulmonary embolism (IFPE) causes sudden death without an identifiable thrombogenic risk. We aimed to investigate the…”
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Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family by Dong, Jingyun, Williams, Nori, Cerrone, Marina, Borck, Christopher, Wang, Dawei, Zhou, Bo, Eng, Lucy S., Subbotina, Ekaterina, Um, Sung Yon, Lin, Ying, Ruiter, Kevin, Rojas, Lisa, Coetzee, William A., Sampson, Barbara A., Tang, Yingying

“…Molecular testing of the deceased (Molecular Autopsy) is an overlooked area in the United States healthcare system and is not covered by medical insurance,…”
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Using postmortem formalin fixed paraffin-embedded tissues for molecular testing of sudden cardiac death: A cautionary tale of utility and limitations by Lin, Ying, Gryazeva, Tatyana, Wang, Dawei, Zhou, Bo, Um, Sung Yon, Eng, Lucy S., Ruiter, Kevin, Rojas, Lisa, Williams, Nori, Sampson, Barbara A., Tang, Yingying

“…•The validity of molecular testing of a panel of 95 cardiac genes using FFPE samples typically processed by the Medical Examiners was evaluated.•The sequencing…”
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Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series by Williams, Nori, Marion, Robert, McDonald, Thomas V., Wang, Dawei, Zhou, Bo, Eng, Lucy S., Um, Sung Yon, Lin, Ying, Ruiter, Kevin, Rojas, Lisa, Sampson, Barbara A., Tang, Yingying

“…Our aim is to characterize predicted protein-truncating variants (PTVs) in MYBPC3, the gene most commonly associated with hypertrophic cardiomyopathy (HCM),…”
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