P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition
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
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
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
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Expression and evolutionary relationships of the Chenopodium quinoa 11S seed storage protein gene
Balzotti, M.R.B, Thornton, J.N, Maughan, P.J, McClellan, D.A, Stevens, M.R, Jellen, E.N, Fairbanks, D.J, Coleman, C.E
Published in International journal of plant sciences (01.02.2008)
Published in International journal of plant sciences (01.02.2008)
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Journal Article
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone U.S., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, Thabo Michael, Rehm, Heidi L.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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Journal Article
Cover, Volume 41, Issue 8
Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Journal Article
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Journal Article
Inside Back Cover, Volume 41, Issue 8
Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Journal Article
Launch of the gene curation coalition database
DiStefano, Marina, Goehringer, Scott, Amberger, Joanna, Tse, Christina Austin, Balzotti, Marie, Berg, Jonathan, Birney, Ewan, Bocchini, Carol, Bruford, Elspeth, Coffey, Alison, Collins, Heather, Cunningham, Fiona, Firth, Helen, Fitzpatrick, David, Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew, Leigh, Sarah, Leong, Ivone, Martin, Christa, McDonagh, Ellen, Puzriakova, Arina, Olry, Annie, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Ware, James, Williams, Eleanor, Wright, Caroline, Yates, Michael, Rehm, Heidi
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP348 - Launch of the gene curation coalition database
DiStefano, Marina, Goehringer, Scott, Amberger, Joanna, Tse, Christina Austin, Balzotti, Marie, Berg, Jonathan, Birney, Ewan, Bocchini, Carol, Bruford, Elspeth, Coffey, Alison, Collins, Heather, Cunningham, Fiona, Firth, Helen, Fitzpatrick, David, Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew, Leigh, Sarah, Leong, Ivone, Martin, Christa, McDonagh, Ellen, Puzriakova, Arina, Olry, Annie, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Ware, James, Williams, Eleanor, Wright, Caroline, Yates, Michael, Rehm, Heidi
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Expression and Evolutionary Relationships of theChenopodium quinoa11S Seed Storage Protein Gene
Balzotti, Marie R. B., Thornton, Jennifer N., Maughan, Peter J., McClellan, David A., Stevens, Mikel R., Jellen, Eric N., Fairbanks, Daniel J., Coleman, Craig E.
Published in International journal of plant sciences (01.02.2008)
Published in International journal of plant sciences (01.02.2008)
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Journal Article