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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
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms Wright, Matt W.; Thaxton, Courtney L.; Nelson, Tristan; DiStefano, Marina T.; Savatt, Juliann M.; Brush, Matthew H.; Cheung, Gloria; Mandell, Mark E.; Wulf, Bryan; Ward, T. J.; Goehringer, Scott; O'Neill, Terry; Weller, Phil; Preston, Christine G.; Keseler, Ingrid M.; Goldstein, Jennifer L.; Strande, Natasha T.; Mcglaughon, Jennifer; Azzariti, Danielle R.; Cordova, Ineke; Dziadzio, Hannah; Babb, Lawrence; Riehle, Kevin; Milosavljevic, Aleksandar; Martin, Christa Lese; Rehm, Heidi L.; Plon, Sharon E.; Berg, Jonathan S.; Riggs, Erin R.; Klein, Teri E. Share Save
The Brain Gene Registry: a data snapshot Baldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M.; Hauck, Rachel; Sveden, Abigail; Constantino, John N.; Piven, Joseph; Gurnett, Christina A.; Chopra, Maya; Hazlett, Heather; Payne, Philip R. O. Share Save
Clinical variants paired with phenotype: A rich resource for brain gene curation Chopra, Maya; Savatt, Juliann M.; Bingaman, Taylor I.; Good, Molly E.; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison M.; Vanhoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina A.; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott L.; Sahin, Mustafa; Payne, Philip R. O.; Riggs, Erin Rooney; Constantino, John N. Share Save
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group Schmidt, Ryan J.; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A.; Coe, Bradley P.; Conlin, Laura K.; Ganapathi, Mythily; Garcia, John; Gollob, Michael H.; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; Mcgoldrick, Kelly; Palculict, T. Blake; Pesaran, Tina; Pollin, Toni I.; Qian, Emily; Rehm, Heidi L.; Riggs, Erin R.; Schilit, Samantha L. P.; Sergouniotis, Panagiotis I.; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S. Share Save
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms Roberts, Angharad M.; DiStefano, Marina T.; Riggs, Erin Rooney; Josephs, Katherine S.; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S.; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen, V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L.; McDonagh, Ellen M.; Perrett, Daniel; Ramos, Erin M.; Robinson, Peter N.; Rath, Ana; Sant, David W.; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L.; Ware, James S. 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
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) Raca, Gordana; Astbury, Caroline; Behlmann, Andrea; De Castro, Mauricio J.; E. Hickey, Scott; Karaca, Ender; Lowther, Chelsea; Rooney Riggs, Erin; A. Seifert, Bryce; C. Thorland, Erik; Deignan, Joshua L. Share Save
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels Riggs, Erin Rooney; Bingaman, Taylor, I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R.; Dharmadhikari, Avinash, V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R.; Hughes, Madeline Y.; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aime; Mah, Michelle; Maloney, Caitlin M.; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A.; Reble, Emma; Rennie, Olivia; Savatt, Juliann M.; Shimelis, Hermela; Siegert, Rebecca K.; Sneddon, Tam P.; Thaxton, Courtney; Toner, Kelly A.; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H.; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A. S.; Miller, David T.; Schaaf, Christian P. Share Save
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. Share Save
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Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification Thaxton, Courtney; Good, Molly E.; DiStefano, Marina T.; Luo, Xi; Andersen, Erica F.; Thorland, Erik; Berg, Jonathan; Martin, Christa Lese; Rehm, Heidi L.; Riggs, Erin R. 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
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Response to Maya et al. Riggs, Erin Rooney; 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 Lese Share Save
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties Wain, Karen E.; Azzariti, Danielle R.; Goldstein, Jennifer L.; Johnson, Amy Knight; Krautscheid, Patti; Lepore, Brianna; O'Daniel, Julianne M.; Ritter, Deborah; Savatt, Juliann M.; Riggs, Erin Rooney; Martin, Christa Lese 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) 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
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species Shefchek, Kent A.; Harris, Nomi L.; Gargano, Michael; Matentzoglu, Nicolas; Unni, Deepak; Brush, Matthew; Keith, Daniel; Conlin, Tom; Vasilevsky, Nicole; Zhang, Xingmin Aaron; Balhoff, James P.; Babb, Larry; Bello, Susan M.; Blau, Hannah; Bradford, Yvonne; Carbon, Seth; Carmody, Leigh; Chan, Lauren E.; Cipriani, Valentina; Cuzick, Alayne; Della Rocca, Maria; Dunn, Nathan; Essaid, Shahim; Fey, Petra; Grove, Chris; Gourdine, Jean-Phillipe; Hamosh, Ada; Harris, Midori; Helbig, Ingo; Hoatlin, Maureen; Joachimiak, Marcin; Jupp, Simon; Lett, Kenneth B.; Lewis, Suzanna E.; McNamara, Craig; Pendlington, Zoe M.; Pilgrim, Clare; Putman, Tim; Ravanmehr, Vida; Reese, Justin; Riggs, Erin; Robb, Sofia; Roncaglia, Paola; Seager, James; Segerdell, Erik; Similuk, Morgan; Storm, Andrea L.; Thaxon, Courtney; Thessen, Anne; Jacobsen, Julius O. B.; McMurry, Julie A.; Groza, Tudor; Koehler, Sebastian; Smedley, Damian; Robinson, Peter N.; Mungall, Christopher J.; Haendel, Melissa A.; Munoz-Torres, Monica C.; Osumi-Sutherland, David Share Save
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future Milko, Laura, V; Funke, Birgit H.; Hershberger, Ray E.; Azzariti, Danielle R.; Lee, Kristy; Riggs, Erin R.; Rivera-Munoz, Edgar A.; Weaver, Meredith A.; Niehaus, Annie; Currey, Erin L.; Craigen, William J.; Mao, Rong; Offit, Kenneth; Steiner, Robert D.; Martin, Christa L.; Rehm, Heidi L.; Watson, Michael S.; Ramos, Erin M.; Plon, Sharon E.; Berg, Jonathan S. Share Save
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