Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Tami Johnston"'
Autor:
Joshua L. Deignan, Mauricio De Castro, Vanessa L. Horner, Tami Johnston, Daniela Macaya, Joseph J. Maleszewski, Honey V. Reddi, Marwan K. Tayeh
Publikováno v:
Genetics in Medicine. 25:100017
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ba01bab3b523c17543b355671fccdc8
https://doi.org/10.1016/j.gim.2023.100017
https://doi.org/10.1016/j.gim.2023.100017
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8320282c0dfc25e4e473d50876f07672
http://europepmc.org/articles/PMC8188618
http://europepmc.org/articles/PMC8188618
Autor:
Joana Rita Chora, Margaret Chen, Lukáš Tichý, Sarah Leigh, Tomáš Freiberger, Michael A. Iacocca, Michal Kramarek, Robert A. Hegele, Hannah Wand, Cinthia E. Jannes, Liam R. Brunham, Heather Zimmermann, ClinGen Familial Hypercholesterolemia Expert Panel, Tami Johnston, Eric J.G. Sijbrands, Steve E. Humphries, Serra Kim, C. Lisa Kurtz, Alexandre C. Pereira, Mafalda Bourbon, Amanda J. Hooper, Jessica Chonis, Jian Wang, Mark Trinder, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon, Alain Carrié
Publikováno v:
Genetics in Medicine, 24(2), 293-306. Lippincott Williams & Wilkins
The online version of this article (https://doi.org/10.1016/j. gim.2021.09.012) contains supplementary material, which is available to authorized users. Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Associatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339fef96974d58015c82ac362e1f9381
https://hdl.handle.net/10400.18/8289
https://hdl.handle.net/10400.18/8289
Autor:
Jignesh K. Patel, Andrew M. Rosen, Adam Chamberlin, Benjamin Feldmann, Christian Antolik, Heather Zimmermann, Tami Johnston, Arvind Narayana
Publikováno v:
Neurology and therapy. 11(4)
Hereditary transthyretin amyloidosis (ATTRv [variant]) is a clinically heterogeneous, progressively debilitating, fatal disease resulting from the deposition of insoluble amyloid fibrils in various organs and tissues. Early diagnosis of ATTRv can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbdeacf9eb7f83acc308ced7daec83b2
https://pubmed.ncbi.nlm.nih.gov/35933469
https://pubmed.ncbi.nlm.nih.gov/35933469
Publikováno v:
Journal of Clinical Lipidology. 16:e10-e11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c4b6bf28c593a29d9f71b9a7c75b3e9
https://doi.org/10.1016/j.jacl.2021.09.016
https://doi.org/10.1016/j.jacl.2021.09.016
Autor:
Alexandra Janda, Stephanie E. Wallace, Claudio F. Russo, Dongchuan Guo, Guillaume Jondeau, Dianna M. Milewicz, Ellen M. Hostetler, Catherine Boileau, Nadine Hanna, Roberto Colombo, Tami Johnston, Bo Carlberg, Kwanghyuk Lee, Christian Antolik, Ellen S. Regalado, Suzanne M. Leal, Limin Gong, Richard J. Kulmacz, Matias Hannuksela, Pauline Arnaud
Publikováno v:
Genetics in Medicine. 21:144-151
Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61c490cd42b72834e9fd8f7364652c6
https://doi.org/10.1038/s41436-018-0038-0
https://doi.org/10.1038/s41436-018-0038-0
Autor:
Tomáš Freiberger, Heather Zimmermann, Michael A. Iacocca, Lukas Tichy, Cinthia E. Jannes, Robert A. Hegele, Michal Kramarek, Alain Carrié, Alexandre C. Pereira, Sarah Leigh, Joana Rita Chora, Eric J.G. Sijbrands, Margaret Chen, Hannah Wand, Serra Kim, C. Lisa Kurtz, Tami Johnston, Amanda J. Hooper, Steve E. Humphries, Mark Trinder, Liam R. Brunham, Mafalda Bourbon, Jessica Chonis, Jian Wang, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon
PurposeIn 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for variant classification in Mendelian disorders. To increase accuracy and con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a865356915fa0402144210d466fbb6d2
https://doi.org/10.1101/2021.03.17.21252755
https://doi.org/10.1101/2021.03.17.21252755
Publikováno v:
Journal of Clinical Lipidology. 13:e19-e20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9bf6f30fcc202aa753253281ca8e21d5
https://doi.org/10.1016/j.jacl.2019.04.039
https://doi.org/10.1016/j.jacl.2019.04.039
Autor:
Tami Johnston, Jill S. Dolinsky, Jessica Gage, Lily Hoang, Christian Antolik, Andy Castro, Benjamin Feldmann
Publikováno v:
Journal of Clinical Lipidology. 12:526-527
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ca55efbdc1ad5ce7d63591d774d85f1
https://doi.org/10.1016/j.jacl.2018.03.017
https://doi.org/10.1016/j.jacl.2018.03.017
Autor:
Felicia Hernandez, Jennifer A. Thompson, Lester Carter, Tami Johnston, James R. Gossage, Robert Huether, Aaron Elliott, Elizabeth C. Chao
Publikováno v:
Human Genome Variation
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in ENG, ACVRL1 and SMAD4, which function in regulating the transforming growth factor beta and bone morphogenetic protein signaling pathways. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be57b958b173f12da3b46506c2f98ba
https://pubmed.ncbi.nlm.nih.gov/27081547
https://pubmed.ncbi.nlm.nih.gov/27081547