Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Puzriakova A"'
Autor:
Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
Externí odkaz:
https://doaj.org/article/fd7a496fb21447cda656ca8034d9483a
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Autor:
Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
Externí odkaz:
https://doaj.org/article/33db357776d94cb5babd1aacc95aaecd
Autor:
DiStefano, Marina, Alkuraya, Fowzan, Amberger, Joanna, Austin-Tse, Christina, Austine, Ola, Balzotti, Marie, Berg, Jonathan, Bruford, Elspeth, Byrne, Alicia, Cibrian-Uhalte, Elena, Coffey, Alison, Firth, Helen, Hamosh, Ada, Hunt, Sarah, Klein, Teri, Kurtz, Catherine, Leigh, Sarah, Leong, Ivone, Lucano, Caterina, Maddirevula, Sateesh, O'Neill, Audrey, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Taylor, Julie, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Ware, James, Wayburn, Bess, Weller, Phillip, Rehm, Heidi
Publikováno v:
In Genetics in Medicine Open 2024 2 Supplement 1
Autor:
Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls
Publikováno v:
Am J Hum Genet
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Ha
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Autor:
DiStefano, Marina, Amberger, Joanna, Austin-Tse, Christina, Balzotti, Marie, Amin, Mutaz, Berg, Jonathan, Bocchini, Carol, Bruford, Elspeth, Alkuraya, Fowzan, Coffey, Alison, Collins, Heather, Cunningham, Fiona, Firth, Helen, Fitzpatrick, David, Einhorn, Yaron, Goldstein, Jennifer, Hamosh, Ada, Leigh, Sarah, Leong, Ivone, Martin, Christa, McDonagh, Ellen, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Ware, James, Williams, Eleanor, Wright, Caroline, Yates, Michael, Weller, Phillip, Rehm, Heidi
Publikováno v:
In Genetics in Medicine Open 2023 1(1) Supplement
Akademický článek
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Autor:
Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
PURPOSESeveral groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a ge
Akademický článek
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Autor:
Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins
Publikováno v:
Molecular Genetics and Metabolism. 132:S224-S225
Akademický článek
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