Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jennifer McGlaughon"'
Autor:
Dona Kanavy, Jenny Goldstein, Filippo Pinto e Vairo, Deeksha Bali, Xiangwen Chen-Deutsch, Taraka Donti, Shelly Goomber, Jennifer McGlaughon, Yinghong Pan, Bryce Seifert, Raquel Fernandez, Emily Kyle, Meredith Weaver, Lorne Clarke, Catherine Rehder
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101599- (2024)
Externí odkaz:
https://doaj.org/article/553edb151f4b4b878ba5e28cde90a06b
Autor:
Shruthi Mohan, Megan Mayers, Meredith Weaver, Heather Baudet, Irene De Biase, Jennifer Goldstein, Rong Mao, Jennifer McGlaughon, Ann Moser, Aurora Pujol, Sharon Suchy, Tatiana Yuzyuk, Nancy E. Braverman
Publikováno v:
Molecular Genetics and Metabolism. 139:107604
Autor:
Cynthia A. James, Ray E. Hershberger, Kalliopi Pilichou, Ana Morales, Jan D. H. Jongbloed, Argelia Medeiros Domingo, Jennifer McGlaughon, Alexandros Protonotarios, Courtney Thaxton, Elizabeth Jordan, Emily Brown, Ronald H. Lekanne Deprez, C. Lisa Kurtz, Brittney Murray, Petros Syrris, Babken Asatryan, Daniel P. Judge, J. Peter van Tintelen, Julia Cadrin-Tourigny, Rudy Celeghin
Publikováno v:
James, Cynthia A; Jongbloed, Jan D H; Hershberger, Ray E; Morales, Ana; Judge, Daniel P; Syrris, Petros; Pilichou, Kalliopi; Domingo, Argelia Medeiros; Murray, Brittney; Cadrin-Tourigny, Julia; Lekanne Deprez, Ronald; Celeghin, Rudy; Protonotarios, Alexandros; Asatryan, Babken; Brown, Emily; Jordan, Elizabeth; McGlaughon, Jennifer; Thaxton, Courtney; Kurtz, C Lisa and van Tintelen, J Peter (2021). International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circulation. Genomic and precision medicine, 14(3), e003273. American Heart Association 10.1161/CIRCGEN.120.003273
Circulation. Genomic and Precision Medicine
Circulation-Genomic and precision medicine, 14(3), 273-284. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 14(3):e003273, 273-284. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine
Circulation-Genomic and precision medicine, 14(3), 273-284. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 14(3):e003273, 273-284. Lippincott Williams and Wilkins Ltd.
Supplemental Digital Content is available in the text.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing i
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing i
Autor:
Ozlem Senol-Cosar, Marzia Pasquali, Meredith A. Weaver, Wei Shen, Justyne Ross, Annette Feigenbaum, Gregory M. Enns, Kathleen Wallace, Elaine Lyon, Rong Mao, Jennifer McGlaughon, Heather Baudet
Publikováno v:
Molecular Genetics and Metabolism. 128:122-128
Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the need fo
Autor:
Marc S. Greenblatt, Deborah I. Ritter, Matthew J. Ferber, Jennifer McGlaughon, Kristy Lee, Ryan J. Schmidt, Bryony A. Thompson, Bryce A. Seifert, Maegan E. Roberts, Liying Zhang, Mackenzie Trapp, Sharisse Jimenez, Sarah A. Jackson, Sharon E. Plon, Zsofia K. Stadler, Kenneth Offit
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework. Methods: Forty-two gene-disease pairs were assessed for strength of evidence supp
Autor:
Alexa Dickson, Ann B. Moser, Jennifer L. Goldstein, Heather Baudet, Rong Mao, Sharon F. Suchy, Meredith A. Weaver, Nancy Braverman, Tatiana Yuzyuk, Jennifer McGlaughon, Gerald V. Raymond, Aurora Pujol, Shruthi Mohan, Lora J. H. Bean, Steven J. Steinberg, Irene De Biase, Megan Mayers
Publikováno v:
Molecular Genetics and Metabolism. 132:S236
Autor:
Jennifer McGlaughon, Courtney Thaxton, Jennifer L. Goldstein, Jonathan S. Berg, Sarah E. Hemphill
In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, an appropriate timeline for re-evaluating curated gene-disease associations will need to be determined. To pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818b8a2d81adb2791e95e275afe53e7d
https://europepmc.org/articles/PMC6190678/
https://europepmc.org/articles/PMC6190678/