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Academic Journal
Thaxton, Courtney; Biesecker, Leslie G.; DiStefano, Marina; Haendel, Melissa; Hamosh, Ada; Owens, Emma; Plon, Sharon E.; Rehm, Heidi L.; Berg, Jonathan S.
In The American Journal of Human Genetics 5 September 2024 111(9):1810-1818
Academic Journal
Guha, Saurav; Reddi, Honey V.; Aarabi, Mahmoud; DiStefano, Marina; Wakeling, Erin; Dungan, Jeffrey S.; Gregg, Anthony R.
In Genetics in Medicine July 2024 26(7)
Academic Journal
Thaxton, Courtney; Goldstein, Jennifer; DiStefano, Marina; Wallace, Kathleen; Witmer, P. Dane; Haendel, Melissa A.; Hamosh, Ada; Rehm, Heidi L.; Berg, Jonathan S.
In Cell Genomics 11 May 2022 2(5)
Academic Journal
Cordova, Ineke; Bly, Zo; Berg, Jonathan; Bulkley, Joanna; DiStefano, Marina; Klein, Teri; Morales, Joannella; Ritter, Deborah; Riggs, Erin
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Robertson, Pamela Ajuyah; Byrne, Alicia; Ratliff, Julie; O'Neill, Audrey; DiStefano, Marina; Burkardt, Deepika; Ferreira, Carlos; Brown, Kerry
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
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
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Thaxton, Courtney; Biesecker, Leslie; DiStefano, Marina; Haendel, Melissa; Owens, Emma; Hamosh, Ada; Plon, Sharon; Rehm, Heidi; Berg, Jonathan
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Wright, Matthew; Preston, Christine; Dalton, Karen; Cheung, Gloria; Mandell, Mark; Wulf, Bryan; Babb, Lawrence; DiStefano, Marina; Harrison, Steven; Klein, Clarissa; Shapira, Rachel; Keseler, Ingrid; Ritter, Deborah; Shah, Neethu; Riehle, Kevin; Milosavljevic, Aleksandar; Plon, Sharon; Klein, Teri
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
DiStefano, Marina; Webb, Ryan; McCurry, Hannah; McNulty Gray, Shannon; Tomar, Swati; Kopparapu, Prasad; Broeren, Eleanor; Tshering, Kezang; Beggs, Alan; Bertini, Enrico Silvio; D'Amico, Adele; Donkervoort, Sandra; Dowling, James; Fattori, Fabiana; Ferreiro, Ana; Genetti, Casie; Gonorazky, Hernan; Gorokhova, Svetlana; Lindy, Amanda; Medne, Livija; Pajusalu, Sander; Pelin, Katarina; Rendu, John; Vatta, Matteo; Winder, Tom; Yang, Hui; Yoon, Grace; Ceyhan-Birsoy, Ozge; Bönnemann, Carsten
In Genetics in Medicine Open 2023 1(1) Supplement
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Academic Journal
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
In Genetics in Medicine Open 2023 1(1) Supplement
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[AR] DiStefano, Marina
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