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MRD Assay evaluates Recurrence and response via a tumor Informed Assessment: MARIA-Breast Observational Trial Esplin, Edward; Swan, Kelli; Ifhar, Lee; Heald, Brandie; Nielsen, Sarah; Pineda-Alvarez, Daniel; O'Callaghan, William; Daber, Robert; Ross, Darrel; Vieira, Carlos; Chaudhuri, Aadel; Korn, W. Share Save
Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making Shelton, Charles; Nielsen, Sarah; Ruiz, Antonio; Shelton, Lauren; Freas, Karen; Poll, Sarah; Heald, Brandie; Pineda-Alvarez, Daniel; Esplin, Edward; Ellsworth, Rachel; Montgomery, Hannah Share Save
ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making Shelton, Charles; Ruiz, Antonio; Shelton, Lauren; Montgomery, Hannah; Freas, Karen; Ellsworth, Rachel E.; Poll, Sarah; Pineda-Alvarez, Daniel; Heald, Brandie; Esplin, Edward D.; Nielsen, Sarah M. Share Save
Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making Shelton, Charles; Ruiz, Antonio; Shelton, Lauren; Montgomery, Hannah; Freas, Karen; Ellsworth, Rachel E.; Poll, Sarah; Pineda-Alvarez, Daniel; Heald, Brandie; Esplin, Edward D.; Nielsen, Sarah M. Share Save
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives Heald, Brandie; Pirzadeh-Miller, Sara; Ellsworth, Rachel E.; Nielsen, Sarah M.; Russell, Emily M.; Beitsch, Peter; Esplin, Edward D.; Nussbaum, Robert L.; Pineda-Alvarez, Daniel E.; Kurian, Allison W.; Hampel, Heather 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
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals Truty, Rebecca; Rojahn, Susan; Ouyang, Karen; Kautzer, Curtis; Kennemer, Michael; Pineda-Alvarez, Daniel; Johnson, Britt; Stafford, Amanda; Basel-Salmon, Lina; Saitta, Sulagna; Slavotinek, Anne; Chandrasekharappa, Settara C.; Suarez, Carlos Jose; Burnett, Leslie; Nussbaum, Robert L.; Aradhya, Swaroop Share Save
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study Ossa Gomez, Carlos Andres; Achatz, Maria Isabel; Hurtado, Mabel; Sanabria-Salas, Maria Carolina; Sullcahuaman, Yasser; Chavarri-Guerra, Yanin; Dutil, Julie; Nielsen, Sarah M.; Esplin, Edward D.; Michalski, Scott T.; Bristow, Sara L.; Hatchell, Kathryn E.; Nussbaum, Robert L.; Pineda-Alvarez, Daniel E.; Ashton-Prolla, Patricia Share Save
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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
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation McCormick, Elizabeth M.; Lott, Marie T.; Dulik, Matthew C.; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda-Alvarez, Daniel E.; Singh, Larry N.; Stanley, Christine M.; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shiping; Procaccio, Vincent; Wallace, Douglas C.; Gai, Xiaowu; Falk, Marni J. Share Save
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
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer Clark, Dana Farengo; Michalski, Scott T.; Tondon, Rashmi; Nehoray, Bita; Ebrahimzadeh, Jessica; Hughes, Sarah Kate; Soper, Emily R.; Domchek, Susan M.; Rustgi, Anil K.; Pineda-Alvarez, Daniel; Anderson, Michael J.; Katona, Bryson W. Share Save
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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
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants Luo, Xi; Feurstein, Simone; Mohan, Shruthi; Porter, Christopher C.; Jackson, Sarah A.; Keel, Sioban; Chicka, Michael; Brown, Anna L.; Kesserwan, Chimene; Agarwal, Anupriya; Luo, Minjie; Li, Zejuan; Ross, Justyne E.; Baliakas, Panagiotis; Pineda-Alvarez, Daniel; DiNardo, Courtney D.; Bertuch, Alison A.; Mehta, Nikita; Vulliamy, Tom; Wang, Ying; Nichols, Kim E.; Malcovati, Luca; Walsh, Michael F.; Rawlings, Lesley H.; McWeeney, Shannon K.; Soulier, Jean; Raimbault, Anna; Routbort, Mark J.; Zhang, Liying; Ryan, Gabriella; Speck, Nancy A.; Plon, Sharon E.; Wu, David; Godley, Lucy A. Share Save
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants Granadillo, Jorge L.; Chung, Wendy K.; Hecht, Leah; Corsten-Janssen, Nicole; Wegner, Daniel; Bijvank, Sebastiaan W. A. Nij; Toler, Tomi L.; Pineda-Alvarez, Daniel E.; Douglas, Ganka; Murphy, Joshua J.; Shimony, Joshua; Shinawi, Marwan Share Save