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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource Popejoy, Alice B.; Ritter, Deborah I.; Azzariti, Danielle; Berg, Jonathan S.; Bulkley, Joanna E.; Cho, Mildred; Gonzaga-Jauregui, Claudia; Klein, Teri E.; Martschenko, Daphne O.; Oni-Orisan, Akinyemi; Ramos, Erin M.; Rehm, Heidi L.; Riggs, Erin R.; Wright, Matthew W.; Yudell, Michael; Plon, Sharon E.; Morales, Joannella Share Save
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas v. O.; Pineda, Marta; Ritter, Deborah; de Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capella, Gabriel; Latchford, Andrew; Tavtigian, Sean, V; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan Share Save
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis Variant Curation Expert Panel Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V. O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stephanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capella, Gabriel; Tavtigian, Sean, V; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
Response to Spurdle et al Riggs, Erin R.; Andersen, Erica F.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa L. Share Save
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation Hatton, Jessica N.; Frone, Megan N.; Cox, Hannah C.; Crowley, Stephanie B.; Hiraki, Susan; Yokoyama, Noriko N.; Abul-Husn, Noura S.; Amatruda, James F.; Anderson, Michael J.; Bofill-De Ros, Xavier; Carr, Ann G.; Chao, Elizabeth C.; Chen, Kenneth S.; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritter, Deborah; Schultz, Kris Ann P.; Soper, Emily R.; Wu, Mona K.; Mester, Jessica L.; Kim, Jung; Foulkes, William D.; Witkowski, Leora; Stewart, Douglas R. Share Save
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is Salehipour, Dena; Farncombe, Kirsten M.; Andric, Veronica; Ansar, Safa; Delong, Sean; Li, Eric; Macpherson, Samantha; Ridd, Sarah; Ritter, Deborah I.; Thaxton, Courtney; Kim, Raymond H. Share Save
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase Krysiak, Kilannin; Danos, Arpad M.; Saliba, Jason; McMichael, Joshua F.; Coffman, Adam C.; Kiwala, Susanna; Barnell, Erica K.; Sheta, Lana; Grisdale, Cameron J.; Kujan, Lynzey; Pema, Shahil; Lever, Jake; Ridd, Sarah; Spies, Nicholas C.; Andric, Veronica; Chiorean, Andreea; Rieke, Damian T.; Clark, Kaitlin A.; Reisle, Caralyn; Venigalla, Ajay C.; Evans, Mark; Jani, Payal; Takahashi, Hideaki; Suda, Avila; Horak, Peter; Ritter, Deborah, I; Zhou, Xin; Ainscough, Benjamin J.; Delong, Sean; Kesserwan, Chimene; Lamping, Mario; Shen, Haolin; Marr, Alex R.; Hoang, My H.; Singhal, Kartik; Khanfar, Mariam; Li, Brian, V; Lin, Wan-Hsin; Terraf, Panieh; Corson, Laura B.; Salama, Yasser; Campbell, Katie M.; Farncombe, Kirsten M.; Ji, Jianling; Zhao, Xiaonan; Xu, Xinjie; Kanagal-Shamanna, Rashmi; King, Ian; Cotto, Kelsy C.; Skidmore, Zachary L.; Walker, Jason R.; Zhang, Jinghui; Milosavljevic, Aleksandar; Patel, Ronak Y.; Giles, Rachel H.; Kim, Raymond H.; Schriml, Lynn M.; Mardis, Elaine R.; Jones, Steven J. M.; Raca, Gordana; Rao, Shruti; Madhavan, Subha; Wagner, Alex H.; Griffith, Malachi; Griffith, Obi L. Share Save
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) (vol 24, pg 986, 2022) Horak, Peter; Griffith, Malachi; Danos, Arpad M.; Pitel, Beth A.; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M.; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D.; Tolstorukov, Michael Y.; Campregher, Paulo Vidal; Warner, Jeremy L.; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah I.; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M.; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H.; Li, Marylin M.; Plon, Sharon E.; Kulkarni, Shashikant; Griffith, Obi L.; Chakravarty, Debyani; Sonkin, Dmitriy Share Save
A community approach to the cancer-variant-interpretation bottleneck Krysiak, Kilannin; Danos, Arpad M.; Kiwala, Susanna; McMichael, Joshua F.; Coffman, Adam C.; Barnell, Erica K.; Sheta, Lana; Saliba, Jason; Grisdale, Cameron J.; Kujan, Lynzey; Pema, Shahil; Lever, Jake; Spies, Nicholas C.; Chiorean, Andreea; Rieke, Damian T.; Clark, Kaitlin A.; Jani, Payal; Takahashi, Hideaki; Horak, Peter; Ritter, Deborah, I; Zhou, Xin; Ainscough, Benjamin J.; Delong, Sean; Lamping, Mario; Marr, Alex R.; Li, Brian, V; Lin, Wan-Hsin; Terraf, Panieh; Salama, Yasser; Campbell, Katie M.; Farncombe, Kirsten M.; Ji, Jianling; Zhao, Xiaonan; Xu, Xinjie; Kanagal-Shamanna, Rashmi; Cotto, Kelsy C.; Skidmore, Zachary L.; Walker, Jason R.; Zhang, Jinghui; Milosavljevic, Aleksandar; Patel, Ronak Y.; Giles, Rachel H.; Kim, Raymond H.; Schriml, Lynn M.; Mardis, Elaine R.; Jones, Steven J. M.; Raca, Gordana; Rao, Shruti; Madhavan, Subha; Wagner, Alex H.; Griffith, Obi L.; Griffith, Malachi Share Save
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) Horak, Peter; Griffith, Malachi; Danos, Arpad M.; Pitel, Beth A.; Madhavan, Subha; Liu, Xuelu; Chow, Cynthia; Williams, Heather; Carmody, Leigh; Barrow-Laing, Lisa; Rieke, Damian; Kreutzfeldt, Simon; Stenzinger, Albrecht; Tamborero, David; Benary, Manuela; Rajagopal, Padma Sheila; Ida, Cristiane M.; Lesmana, Harry; Satgunaseelan, Laveniya; Merker, Jason D.; Tolstorukov, Michael Y.; Campregher, Paulo Vidal; Warner, Jeremy L.; Rao, Shruti; Natesan, Maya; Shen, Haolin; Venstrom, Jeffrey; Roy, Somak; Tao, Kayoko; Kanagal-Shamanna, Rashmi; Xu, Xinjie; Ritter, Deborah, I; Pagel, Kym; Krysiak, Kilannin; Dubuc, Adrian; Akkari, Yassmine M.; Li, Xuan Shirley; Lee, Jennifer; King, Ian; Raca, Gordana; Wagner, Alex H.; Li, Marylin M.; Plon, Sharon E.; Kulkarni, Shashikant; Griffith, Obi L.; Chakravarty, Debyani; Sonkin, Dmitriy Share Save
Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce Williams, Heather; Krysiak, Kilannin; Lin, Wan-Hsin; Roy, Angshumoy; Church, Alanna; Saliba, Jason; Rao, Shruti; Ritter, Deborah; Danos, Arpad; Corson, Laura; Fisher, Kevin; Hiemenz, Matthew; Janeway, Katherine A.; Ji, Jianling; Kesserwan, Chimene; Laetsch, Ted; Parsons, Donald; Schmidt, Ryan; Sund, Kristen; Terraf, Panieh; Xu, Xinjie; Kanagal-Shamana, Rashmi; Dyer, Lisa; Harris, Marian; Lee, Kristy; Wagner, Alex; Akkari, Yassmine; Satgunaseelan, Laveniya; Griffith, Malachi; Griffith, Obi; Kulkarni, Shashikant; Schriml, Lynn; Jean, Jeffrey; Madhavan, Subha; Raca, Gordana Share Save
The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group Saliba, Jason; Raca, Gordana; Roy, Angshumoy; King, Ian; Selvarajah, Shamini; Xu, Xinjie; Kanagal-Shamana, Rashmi; Satgunaseelan, Laveniya; Meredith, David; Evans, Mark; Church, Alanna; Terraf, Panieh; Akkari, Yassmine; Williams, Heather; Lin, Wan-Hsin; Kesserwan, Chimene; Ritter, Deborah; Krysiak, Kilannin; Danos, Arpad; Wagner, Alex; Li, Marilyn; Sonkin, Dmitriy; Berg, Jonathan; Plon, Sharon; Rehm, Heidi; Kulkarni, Shashikant; Govindan, Ramaswamy; Griffith, Obi; Griffith, Malachi Share Save
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (vol 22, pg 245, 2020) Riggs, Erin Rooney; Andersen, Erica F.; Cherry, Athena M.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese Share Save
ClinGen somatic cancer working group: Disseminating standardized cancer molecular diagnostic data and evidence through global collaboration and expert curation Rao, Shruti; Ritter, Deborah; Danos, Arpad; Raca, Gordana; Roy, Angshumoy; Krysiak, Kilannin; Lin, Wan-Hsin; Barnell, Erica; McCoy, Matthew; Pitel, Beth; Sonkin, Dmitriy; Wang, Jue; Hosseini, Seyed Ali; Selvarajah, Shamini; King, Ian; Kanagal-Shamana, Rashmi; Xu, Xinjie; Warner, Jeremy L.; Meric-Bernstam, Funda; Merker, Jason D.; Li, Marilyn; Wagner, Alex H.; Griffith, Malachi; Griffith, Obi L.; Kulkarni, Shashikant; Madhavan, Subha Share Save
Harmonization standards from the Variant Interpretation for Cancer Consortium Wagner, Alex H.; Hart, Reece K.; Babb, Larry; Freimuth, Robert R.; Coffman, Adam; Liang, Yonghao; Pitel, Beth; Roy, Angshumoy; Brush, Matthew; Lee, Jennifer; Lu, Anna; Coard, Thomas; Rao, Shruti; Ritter, Deborah; Walsh, Brian; Mockus, Susan; Horak, Peter; King, Ian; Sonkin, Dmitriy; Madhavan, Subha; Raca, Gordana; Chakravarty, Debyani; Griffith, Malachi; Griffith, Obi L. Share Save
Evolution of the CIViC knowledgebase for community driven curation of clinical variants in cancer Danos, Arpad; Krysiak, Kilannin; Barnell, Erica K.; Coffman, Adam C.; McMichael, Joshua F.; Kiwala, Susanna; Spies, Nicholas C.; Sheta, Lana M.; Pema, Shahil P.; Kujan, Lynzey; Clark, Kaitlin A.; Anderson, Sydney; Wollam, Amber; Li, Brian; Guerra, Justin; Rao, Shruti; Ritter, Deborah, I; Grisdale, Cameron J.; Raca, Gordana; Wagner, Alex H.; Madhavan, Subha; Griffith, Malachi; Griffith, Obi L. Share Save
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