Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Amendola, Laura M., Jarvik, Gail P., Leo, Michael C., McLaughlin, Heather M., Akkari, Yassmine, Amaral, Michelle D., Berg, Jonathan S., Biswas, Sawona, Bowling, Kevin M., Conlin, Laura K., Cooper, Greg M., Dorschner, Michael O., Dulik, Matthew C., Ghazani, Arezou A., Ghosh, Rajarshi, Green, Robert C., Hart, Ragan, Horton, Carrie, Johnston, Jennifer J., Lebo, Matthew S., Milosavljevic, Aleksandar, Ou, Jeffrey, Pak, Christine M., Patel, Ronak Y., Punj, Sumit, Richards, Carolyn Sue, Salama, Joseph, Strande, Natasha T., Yang, Yaping, Plon, Sharon E., Biesecker, Leslie G., Rehm, Heidi L.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Miller, David T., Lee, Kristy, Abul-Husn, Noura S., Amendola, Laura M., Brothers, Kyle, Chung, Wendy K., Gollob, Michael H., Gordon, Adam S., Harrison, Steven M., Hershberger, Ray E., Klein, Teri E., Richards, Carolyn Sue, Stewart, Douglas R., Martin, Christa Lese
Published in Genetics in medicine (01.07.2022)
Published in Genetics in medicine (01.07.2022)
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Amendola, Laura M., Jarvik, Gail P., Leo, Michael C., McLaughlin, Heather M., Akkari, Yassmine, Amaral, Michelle D., Berg, Jonathan S., Biswas, Sawona, Bowling, Kevin M., Conlin, Laura K., Cooper, Greg M., Dorschner, Michael O., Dulik, Matthew C., Ghazani, Arezou A., Ghosh, Rajarshi, Green, Robert C., Hart, Ragan, Horton, Carrie, Johnston, Jennifer J., Lebo, Matthew S., Milosavljevic, Aleksandar, Ou, Jeffrey, Pak, Christine M., Patel, Ronak Y., Punj, Sumit, Richards, Carolyn Sue, Salama, Joseph, Strande, Natasha T., Yang, Yaping, Plon, Sharon E., Biesecker, Leslie G., Rehm, Heidi L.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members
Berg, Alfred O., Botkin, Jeffrey, Calonge, Ned, Campos-Outcalt, Doug, Haddow, James E., Hayes, Maxine, Kaye, Celia, Klein, Roger D., Offit, Kenneth, Pauker, Stephen G., Piper, Margaret, Sue Richards, Carolyn, Scott, Joan A., Strickland, Ora L., Teutsch, Steven, Veenstra, David L.
Published in Genetics in medicine (01.01.2011)
Published in Genetics in medicine (01.01.2011)
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Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics
Maddalena, Anne, Richards, Carolyn Sue, McGinniss, Matthew J, Brothman, Arthur, Desnick, Robert J, Grier, Robert E, Hirsch, Betsy, Jacky, Peter, McDowell, Geraldine A, Popovich, Bradley, Watson, Michael, Wolff, Daynna J
Published in Genetics in medicine (01.05.2001)
Published in Genetics in medicine (01.05.2001)
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PS2-11: Validation of KRAS Mutation Testing Across Five Certified Laboratories
Feigelson, H., Rahm, A. K., Funk, K., Kauffman, T., Johnson, M., Richards, C. S., LeMarchand, L., Goddard, K.
Published in Clinical medicine & research (01.11.2011)
Published in Clinical medicine & research (01.11.2011)
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Goddard, Katrina A.B., Bernhardt, Barbara A., Biswas, Sawona, Bowling, Kevin M., Caga-anan, Charlisse F., Chinnaiyan, Arul M., Clayton, Ellen W., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Hindorff, Lucia A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Knoppers, Bartha M., Krantz, Ian D., Manolio, Teri A., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Appelbaum, Paul S., Arora, Shubhangi, Brothers, Kyle B., Brown, Brian L., Caga-anan, Charlisse F., Calikoglu, Muge G., Christensen, Kurt D., Cirino, Allison L., Conlin, Laura K., Crosslin, David R., Davis, James V., Dorschner, Michael O., Dugan, Noreen P., Exe, Nicole, Fishler, Kristen, Ghrundmeier, Bob, Gordon, Adam S., Gray, David E., Gray, Stacy W., Gutierrez, Amanda M., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Horike-Pyne, Martha J., Hull, Sara, Jensen, Brian C., Joffe, Steve, Kaufman, Dave, Kim, Jerry H., Klein, William, Lambert, Michele P., Leo, Michael C., Lewis, Katie, Lonigro, Bob, Machini, Kalotina, Manolio, Teri A., McCullough, Laurence, McMullen, Carmit, Mooney, Sean D., Moore, Elizabeth G., Muzny, Donna, Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Parsons, Will, Plon, Sharon, Powell, Bradford C., Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reiss, Jacob A., Robertson, Peggy D., Robinson, Dan, Salama, Joseph, Scarano, Maria I., Sholl, Lynette M., Silverman, Elian, Simmons, Shirley, Spinner, Nancy B., Stoffel, Elena, Tilley, Christian R., Trinidad, Susan, Ubel, Peter, Vassy, Jason L., Vries, Raymond D., Weck, Karen, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho, Zikmund-Fisher, Brian J.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A
Gessner, Bradford D., Wood, Thalia, Johnson, Monique A., Richards, Carolyn Sue, Koeller, David M.
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer?
Published in Genetics in medicine
(01.01.2009)
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Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
Calonge, Ned, Fisher, Nancy L, Berg, Alfred O, Campos-Outcalt, Doug, Djulbegovic, Benjamin, Ganiats, Theodore G, Haddow, James E, Klein, Roger D, Lyman, Donald O, Offit, Kenneth, Pauker, Stephen G, Piper, Margaret, Richards, Carolyn Sue, Strickland, Ora L, Tunis, Sean R, Veenstra, David L
Published in Genetics in medicine (01.07.2013)
Published in Genetics in medicine (01.07.2013)
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Conference Proceeding
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Goddard, Katrina A.B., Jarvik, Gail P., Amendola, Laura M., Berg, Jonathan S., Blout, Carrie L., Brothers, Kyle B., Caga-anan, Charlisse F., Clayton, Ellen W., East, Kelly, Evans, James P., Fullerton, Stephanie M., Holm, Ingrid A., Kaufman, David, Knoppers, Bartha M., McCullough, Laurence, McGuire, Amy, Myers, Richard M., Nickerson, Deborah A., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Veenstra, David L., Wagle, Nikhil, Wynn, Julia, Amendola, Laura, Aronson, Samuel J., Arora, Shubhangi, Azzariti, Danielle R., Biesecker, Barbara B., Byers, Peter H., Calikoglu, Muge G., Cirino, Allison L., Conlin, Laura K., Cooper, Greg M., Crosslin, David R., Davis, James V., Dugan, Noreen P., Exe, Nicole, Fan, Zheng, Filipski, Kelly, Fishler, Kristen, Ghrundmeier, Bob, Gilmore, Marian J., Gordon, Adam S., Gornick, Michele C., Grady, William M., Gutierrez, Amanda M., Hensman, Naomi, Himes, Patricia, Hisama, Fuki M., Hull, Sara, Joffe, Steve, Karavite, Dean, Kauffman, Tia L., Kaufman, Dave, Kim, Jerry H., Klein, William, Krantz, Ian, Le, Lan Q., Lebo, Matthew S., Leo, Michael C., Lewis, Katie, Lewis, Michelle, Lindeman, Neal I., Lonigro, Bob, Lose, Edward J., Lupo, Philip J., Machini, Kalotina, Marchuk, Daniel S., McMullen, Carmit, Miller, Victoria A., Moore, Elizabeth G., Ng, David, Oliver, Nelly M., Parsons, Will, Patrick, Donald L., Plon, Sharon, Powell, Bradford C., Breitkopf, Carmen Radecki, Raskind, Wendy H., Rini, Christine, Robertson, Peggy D., Salama, Joseph, Shirts, Brian H., Siddiqui, Javed, Silverman, Elian, Simmons, Shirley, Simons, Janae V., Stoffel, Elena, Tilley, Christian R., Tomlinson, Ashley, Trinidad, Susan, Ubel, Peter, Walsh, Rebecca C., Wilfond, Ben, Wilhelmsen, Kirk C., Young, Carol
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Recommendations from the EGAPP Working Group: does the use of Oncotype DX tumor gene expression profiling to guide treatment decisions improve outcomes in patients with breast cancer?
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group
Published in Genetics in medicine (01.08.2016)
Published in Genetics in medicine (01.08.2016)
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Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update
Veenstra, David L., Piper, Margaret, Haddow, James E., Pauker, Stephen G., Klein, Roger, Richards, Carolyn Sue, Tunis, Sean R., Djulbegovic, Benjamin, Marrone, Michael, Lin, Jennifer S., Berg, Alfred O., Calonge, Ned
Published in Genetics in medicine (01.01.2013)
Published in Genetics in medicine (01.01.2013)
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The EGAPP initiative: lessons learned
Calonge, Ned, Klein, Roger D, Berg, Alfred O, Berg, Jonathan S, Armstrong, Katrina, Botkin, Jeffrey, Campos-Outcalt, Doug, Djulbegovic, Benjamin, Fisher, Nancy L, Ganiats, Theodore G, Haddow, James E, Hayes, Maxine, Janssens, A Cecile JW, Kaye, Celia, Lyman, Donald O, Offit, Kenneth, Pauker, Stephen G, Phillips, Kathryn A, Piper, Margaret, Richards, Carolyn Sue, Scott, Joan A, Strickland, Ora L, Teutsch, Steven, Tunis, Sean R, Veenstra, David L, Williams, Marc S, Zallen, Doris T
Published in Genetics in medicine (01.03.2014)
Published in Genetics in medicine (01.03.2014)
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