Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Megan H. Hawley"'
Autor:
Matthew S. Lebo, Christopher Koch, Lisa Mahanta, Scott T. Weiss, John B. Harley, Gail P. Jarvik, Prathik K. Vijay Kumar, Melanie F. Myers, Kathleen A. Leppig, Elizabeth W. Karlson, Cynthia A. Prows, Marc S. Williams, Andrea M. Oza, Heidi L. Rehm, Hana Zouk, Megan H. Hawley, Wanfeng Yu
Publikováno v:
Genet Med
The clinical genomics knowledgebase is dynamic with variant classifications changing as newly identified cases, additional population data, and other evidence become available. This is a challenge for the clinical laboratory because of limited resour
Autor:
Antonio de Marvao, Francesca Girolami, Antonis Pantazis, Francesco Mazzarotto, A. John Baksi, James S. Ware, Kathryn A. McGurk, Iacopo Olivotto, Megan H. Hawley, Angharad M. Roberts, Sanjay K Prasad, Roddy Walsh, Elisabetta Cerbai, Paul J.R. Barton, Beatrice Boschi, Ben Statton, Soha Romeih, Leander Beekman, Elisabeth M. Lodder, Declan P. O'Regan, Matteo Beltrami, Connie R. Bezzina, Magdi H. Yacoub, Birgit Funke, Mona Allouba, Yasmine Aguib, Stuart A. Cook
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(5), 856-864. Lippincott Williams and Wilkins
Genetics in medicine, 23(5), 856-864. Lippincott Williams and Wilkins
Purpose: To characterize the genetic architecture of left ventricular noncompaction (LVNC) and investigate the extent to which it may represent a distinct pathology or a secondary phenotype associated with other cardiac diseases. Methods: We performe
Autor:
Carolyn Y. Ho, John Garcia, Tami Johnston, Joseph Maleszewski, Alexander Ing, Matteo Vatta, Ray E. Hershberger, Lucas Bronicki, James S. Ware, Arjun K. Manrai, Jodie Ingles, Cardiomyopathy Variant Curation Expert Panel, Gabriele Richard, Olga Jarinova, Lisa Mahanta, Melissa A. Kelly, Tom Winder, Birgit Funke, Christopher Semsarian, K Thomson, Matthew S. Lebo, Allison L. Cirino, Michael Fietz, Mitzi L. Murray, Christina Austin-Tse, Christian Antolik, C. Lisa Kurtz, Linnea M. Baudhuin, Ana Morales, Daniela Macaya, Megan H. Hawley
Publikováno v:
The Journal of Molecular Diagnostics : JMD
Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined a phenotypic data set for
Autor:
Julia Platt, Megan H. Hawley, Gabi Richard, K Thomson, Hana Zouk, James S. Ware, Wendy K. Chung, Hui Mei, Roddy Walsh, Birgit Funke, Ashley Ryan, Matthew S. Lebo, Melissa A. Kelly, Naif A.M. Almontashiri, John Garcia, Daniela Macaya, Leslie G. Biesecker, Matteo Vatta, Matthew T. Wheeler, Heather Mason-Suares, Theresa A. Grebe, Natalie Berger
Publikováno v:
Hum Mutat
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenici
Publikováno v:
Pediatr Pulmonol
Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that a
Publikováno v:
Pediatr Pulmonol
Recognition of underlying genetic etiologies of disease is increasing at an exponential rate, likely due to greater access to and lower cost of genetic testing. Monogenic causes of disease, or conditions resulting from a mutation or mutations in a si
Autor:
Kalliopi Pilichou, Alexandros Protonotarios, Melissa A. Kelly, John Garcia, Annika M. Dries, Gianfranco Sinagra, Crystal Tichnell, Cynthia A. James, Barbara Bauce, Jodie Ingles, Christopher Semsarian, Brittney Murray, Aris Baras, Hana Zouk, Argelia Medeiros-Domingo, Chloe M. Reuter, Rudy Celeghin, Christopher M. Haggerty, Birgit Funke, Jan D. H. Jongbloed, Robert L. Nussbaum, Cristina Basso, J. Peter van Tintelen, Anna Kirillova, Victoria N. Parikh, Megan H. Hawley, Petros Syrris, Matthew R.G. Taylor, Luisa Mestroni, Perry M. Elliott, Ardan M. Saguner, Marina Cerrone, Marco Merlo
Publikováno v:
Genetics in Medicine, 23(10), 1961-1968. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine
Purpose The genetic architecture of Plakophilin 2 (PKP2) cardiomyopathy can inform our understanding of its variant pathogenicity and protein function. Methods We assess the gene-wide and regional association of truncating and missense variants in PK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524c425b188d434134d5e6895416a2e0
http://hdl.handle.net/11577/3397816
http://hdl.handle.net/11577/3397816
Autor:
Brittney Murray, Cynthia A. James, Megan H. Hawley, Crystal Tichnell, Hana Zouk, Christopher M. Haggerty, Birgit Funke, Annika M. Dries, Victoria N. Parikh, Anna Kirillova, Chloe M. Reuter, John Garcia
Publikováno v:
Circulation. 142
Loss of function variants in PKP2 are associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), but little is known about the consequences of PKP2 missense variation. We hypothesized that truncating variants in PKP2 are more likely to b
Autor:
Francesca Girolami, Francesco Mazzarotto, Megan H. Hawley, Roddy Walsh, Elisabetta Cerbai, Stuart A. Cook, Leander Beekman, Beatrice Boschi, Matteo Beltrami, Connie R. Bezzina, Birgit Funke, Angharad M. Roberts, James S. Ware, Iacopo Olivotto, Paul J.R. Barton
Publikováno v:
European Heart Journal. 41
Background Left ventricular non-compaction (LVNC) is a condition characterised by trabeculations in the myocardial wall and is the subject of considerable conjecture as to whether it represents a distinct pathology or a secondary phenotype associated
Publikováno v:
Pediatric Investigation
Pediatric Investigation, Vol 3, Iss 4, Pp 207-208 (2019)
Pediatric Investigation, Vol 3, Iss 4, Pp 207-208 (2019)