Search Results - "Sampson, Barbara A."

Holistic Approach to Determine Cause of Autopsy-Negative Sudden Natural Death by Sampson, Barbara A., MD, PhD, Tang, Yingying, MD, PhD

“…Corresponding Author…”
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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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Women have less severe and extensive coronary atherosclerosis in fatal cases of ischemic heart disease: An autopsy study by Smilowitz, Nathaniel R., MD, Sampson, Barbara A., MD, PhD, Abrecht, Christopher R., BA, Siegfried, Jonathan S., MD, Hochman, Judith S., MD, Reynolds, Harmony R., MD

“…Objective The study aims to evaluate sex differences in extent and severity of coronary artery disease (CAD) and myocardial findings at autopsy among young…”
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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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Report and Recommendations of the Association of Pathology Chairs’ Autopsy Working Group by Davis, Gregory G., Winters, Gayle L., Fyfe, Billie S., Hooper, Jody E., Iezzoni, Julia C., Johnson, Rebecca L., Markwood, Priscilla S., Naritoku, Wesley Y., Nashelsky, Marcus, Sampson, Barbara A., Steinberg, Jacob J., Stubbs, James R., Timmons, Charles, Hoffman, Robert D.

“…Autopsy has been a foundation of pathology training for many years, but hospital autopsy rates are notoriously low. At the 2014 meeting of the Association of…”
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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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Functional characterization of TRPM4 variants identified in sudden unexpected natural death by Subbotina, Ekaterina, Williams, Nori, Sampson, Barbara A., Tang, Yingying, Coetzee, William A.

“…The TRPM4 gene encodes the subunit of the Ca2+-activated nonselective cation channel, which is enriched in the specialized cardiac conduction system and…”
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Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner’s experience and perspective by Tang, Yingying, Williams, Nori, Sampson, Barbara A.

“…Postmortem genetic testing is a diagnostic tool that is becoming increasingly utilized. The benefits and limitations of genetic testing in cases of sudden,…”
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Examination of the Cardiac Explant by Sampson, Barbara A., MD, PhD

“…Abstract Examination of cardiac explants is a challenge to the surgical pathologist. This is due to the complex anatomy of the heart, the numerous pathologies…”
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Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture by Saxton, Sarah, Dickinson, Gregory, Wang, Dawei, Zhou, Bo, Um, Sung Yon, Lin, Ying, Rojas, Lisa, Sampson, Barbara A., Graham, Jason K., Tang, Yingying

“…•Three percent of deaths tested for cardiovascular genetics are due to aortopathies.•Postmortem genetic test yield is 23.5% for aortopathy deaths.•FBN1,…”
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Functional characterization of SCN10A variants in several cases of sudden unexplained death by Gando, Ivan, Williams, Nori, Fishman, Glenn I., Sampson, Barbara A., Tang, Yingying, Coetzee, William A.

“…•Channelopathies are often associated with inherited arrhythmias and sudden death.•Genetic testing can assist in determining the likely causes of sudden…”
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Cardiac genetic test yields and genotype-phenotype correlations from large cohort investigated by medical examiner's office by Saxton, Sarah, Kontorovich, Amy R., Wang, Dawei, Zhou, Bo, Um, Sung Yon, Lin, Ying, Rojas, Lisa, Tyll, Erin, Dickinson, Gregory, Stram, Michelle, Harris, Cynthia K., Gelb, Bruce D., Sampson, Barbara A., Graham, Jason K., Tang, Yingying

“…•High yield genetic testing in decedents with overt or subtle myocardial changes.•MYBPC3, TTN, PKP2, SCN5A, MYH7, and FLNC had most pathogenic…”
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Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death by Dong, Jingyun, Subbotina, Ekaterina, Williams, Nori, Sampson, Barbara A., Tang, Yingying, Coetzee, William A.

“…The HCN4 gene encodes a subunit of the hyperpolarization‐activated cyclic nucleotide‐gated channel, type 4 that is essential for the proper generation of…”
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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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Functional characterization of ABCC9 variants identified in sudden unexpected natural death by Subbotina, Ekaterina, Yang, Hua-Qian, Gando, Ivan, Williams, Nori, Sampson, Barbara A., Tang, Yingying, Coetzee, William A.

“…•Channelopathies are often associated with inherited arrhythmias and sudden death.•Genetic testing can assist in determining the likely causes of sudden…”
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Molecular diagnostics of cardiovascular diseases in sudden unexplained death by Tang, Yingying, Stahl-Herz, Jay, Sampson, Barbara A

“…Abstract The most challenging type of sudden cardiac death is sudden unexplained death. The etiologies for sudden unexplained death are diverse and not…”
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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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The negative autopsy: Sudden cardiac death or other? by Cohle, Stephen D, Sampson, Barbara A

“…One of the most frustrating challenges faced by the forensic pathologist is the inability to determine the cause of death in a young person previously thought…”
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Muscle weakness in west Nile Encephalitis Is Due to Destruction of Motor Neurons by Sampson, Barbara A., Nields, Henry, Armbrustmacher, Vernon, Asnis, Deborah S.

“…The microglial inflammation was present in decreasing intensity in the medulla (in gray matter more than in white matter), cerebellum (especially the dentate…”
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