Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment
KURIAN, Allison W, HARE, Emily E, CARGILL, Michele, FORD, James M, MILLS, Meredith A, KINGHAM, Kerry E, MCPHERSON, Lisa, WHITTEMORE, Alice S, MCGUIRE, Valerie, LADABAUM, Uri, KOBAYASHI, Yuya, LINCOLN, Stephen E
Published in Journal of clinical oncology (01.07.2014)
Published in Journal of clinical oncology (01.07.2014)
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MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia
Treon, Steven P, Xu, Lian, Yang, Guang, Zhou, Yangsheng, Liu, Xia, Cao, Yang, Sheehy, Patricia, Manning, Robert J, Patterson, Christopher J, Tripsas, Christina, Arcaini, Luca, Pinkus, Geraldine S, Rodig, Scott J, Sohani, Aliyah R, Harris, Nancy Lee, Laramie, Jason M, Skifter, Donald A, Lincoln, Stephen E, Hunter, Zachary R
Published in The New England journal of medicine (30.08.2012)
Published in The New England journal of medicine (30.08.2012)
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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
Kobayashi, Yuya, Yang, Shan, Nykamp, Keith, Garcia, John, Lincoln, Stephen E, Topper, Scott E
Published in Genome medicine (06.02.2017)
Published in Genome medicine (06.02.2017)
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Sources of discordance among germ-line variant classifications in ClinVar
Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Published in Genetics in medicine (01.10.2017)
Published in Genetics in medicine (01.10.2017)
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A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
Lincoln, Stephen E, Kobayashi, Yuya, Anderson, Michael J, Yang, Shan, Desmond, Andrea J, Mills, Meredith A, Nilsen, Geoffrey B, Jacobs, Kevin B, Monzon, Federico A, Kurian, Allison W, Ford, James M, Ellisen, Leif W
Published in The Journal of molecular diagnostics : JMD (01.09.2015)
Published in The Journal of molecular diagnostics : JMD (01.09.2015)
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Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment
Desmond, Andrea, Kurian, Allison W, Gabree, Michele, Mills, Meredith A, Anderson, Michael J, Kobayashi, Yuya, Horick, Nora, Yang, Shan, Shannon, Kristen M, Tung, Nadine, Ford, James M, Lincoln, Stephen E, Ellisen, Leif W
Published in JAMA oncology (01.10.2015)
Published in JAMA oncology (01.10.2015)
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Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation
KIDD, Jeffrey M, GRAVEL, Simon, MCLAUGHLIN, Stephen F, PECKHAM, Heather E, OMBERG, Larsson, BORMANN CHUNG, Christina A, STANLEY, Sarah, PEARLSTEIN, Kevin, LEVANDOWSKY, Elizabeth, ACEVEDO-ACEVEDO, Suehelay, AUTON, Adam, KEINAN, Alon, BYRNES, Jake, ACUNA-ALONZO, Victor, BARQUERA-LOZANO, Rodrigo, CANIZALES-QUINTEROS, Samuel, ENG, Celeste, BURCHARD, Esteban G, RUSSELL, Archie, REYNOLDS, Andy, CLARK, Andrew G, REESE, Martin G, LINCOLN, Stephen E, MORENO-ESTRADA, Andres, BUTTE, Atul J, DE LA VEGA, Francisco M, BUSTAMANTE, Carlos D, MUSHAROFF, Shaila, BRYC, Katarzyna, DEGENHARDT, Jeremiah D, BRISBIN, Abra, SHETH, Vrunda, RONG CHEN
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients
Espinel, Whitney, Champine, Marjan, Hampel, Heather, Jeter, Joanne, Sweet, Kevin, Pilarski, Robert, Pearlman, Rachel, Shane, Kate, Brock, Pamela, Westman, Judith A, Kipnis, Lindsay, Sotelo, Jilliane, Chittenden, Anu, Culver, Samantha, Stopfer, Jill E, Schneider, Katherine A, Sacca, Rosalba, Koeller, Diane R, Gaonkar, Shraddha, Vaccari, Erica, Kane, Sarah, Michalski, Scott T, Yang, Shan, Nielsen, Sarah M, Bristow, Sara L, Lincoln, Stephen E, Nussbaum, Robert L, Esplin, Edward D
Published in Cancers (13.05.2022)
Published in Cancers (13.05.2022)
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Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases
Chen, Rong, Corona, Erik, Sikora, Martin, Dudley, Joel T, Morgan, Alex A, Moreno-Estrada, Andres, Nilsen, Geoffrey B, Ruau, David, Lincoln, Stephen E, Bustamante, Carlos D, Butte, Atul J
Published in PLoS genetics (01.04.2012)
Published in PLoS genetics (01.04.2012)
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Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists
Roy, Somak, Coldren, Christopher, Karunamurthy, Arivarasan, Kip, Nefize S, Klee, Eric W, Lincoln, Stephen E, Leon, Annette, Pullambhatla, Mrudula, Temple-Smolkin, Robyn L, Voelkerding, Karl V, Wang, Chen, Carter, Alexis B
Published in The Journal of molecular diagnostics : JMD (01.01.2018)
Published in The Journal of molecular diagnostics : JMD (01.01.2018)
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Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark
Yang, Shan, Axilbund, Jennifer E., O’Leary, Erin, Michalski, Scott T., Evans, Robbie, Lincoln, Stephen E., Esplin, Edward D., Nussbaum, Robert L.
Published in Annals of surgical oncology (01.10.2018)
Published in Annals of surgical oncology (01.10.2018)
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Curated variation benchmarks for challenging medically relevant autosomal genes
Wagner, Justin, Olson, Nathan D, Harris, Lindsay, McDaniel, Jennifer, Cheng, Haoyu, Fungtammasan, Arkarachai, Hwang, Yih-Chii, Gupta, Richa, Wenger, Aaron M, Rowell, William J, Khan, Ziad M, Farek, Jesse, Zhu, Yiming, Pisupati, Aishwarya, Mahmoud, Medhat, Xiao, Chunlin, Yoo, Byunggil, Sahraeian, Sayed Mohammad Ebrahim, Miller, Danny E, Jáspez, David, Lorenzo-Salazar, José M, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A, Flores, Carlos, Narzisi, Giuseppe, Evani, Uday Shanker, Clarke, Wayne E, Lee, Joyce, Mason, Christopher E, Lincoln, Stephen E, Miga, Karen H, Ebbert, Mark T W, Shumate, Alaina, Li, Heng, Chin, Chen-Shan, Zook, Justin M, Sedlazeck, Fritz J
Published in Nature biotechnology (01.05.2022)
Published in Nature biotechnology (01.05.2022)
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Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes
Nussbaum, Robert L, Yang, Shan, Lincoln, Stephen E
Published in Journal of clinical oncology (10.04.2017)
Published in Journal of clinical oncology (10.04.2017)
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Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer
Lincoln, Stephen E, Nussbaum, Robert L, Kurian, Allison W, Nielsen, Sarah M, Das, Kingshuk, Michalski, Scott, Yang, Shan, Ngo, Nhu, Blanco, Amie, Esplin, Edward D
Published in JAMA network open (01.10.2020)
Published in JAMA network open (01.10.2020)
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One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
Lincoln, Stephen E, Hambuch, Tina, Zook, Justin M, Bristow, Sara L, Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H, Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W, Mahamdallie, Shazia, Cleveland, Megan H, Vallone, Peter M, Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L, Huang, Catherine, Garlick, Russell K, Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F, Ferber, Matthew J, Aradhya, Swaroop, Nussbaum, Robert L
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing
Lincoln, Stephen E., Truty, Rebecca, Lin, Chiao-Feng, Zook, Justin M., Paul, Joshua, Ramey, Vincent H., Salit, Marc, Rehm, Heidi L., Nussbaum, Robert L., Lebo, Matthew S.
Published in The Journal of molecular diagnostics : JMD (01.03.2019)
Published in The Journal of molecular diagnostics : JMD (01.03.2019)
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Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors
Crooks, Kristy R, Farwell Hagman, Kelly D, Mandelker, Diana, Santani, Avni, Schmidt, Ryan J, Temple-Smolkin, Robyn L, Lincoln, Stephen E
Published in The Journal of molecular diagnostics : JMD (01.07.2023)
Published in The Journal of molecular diagnostics : JMD (01.07.2023)
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A Genetic Linkage Map of the Mouse: Current Applications and Future Prospects
Copeland, Neal G., Jenkins, Nancy A., Gilbert, Debra J., Eppig, Janan T., Maltais, Lois J., Miller, Joyce C., Dietrich, William F., Weaver, Alix, Lincoln, Stephen E., Steen, Robert G., Stein, Lincoln D., Nadeau, Joseph H., Lander, Eric S.
Published in Science (American Association for the Advancement of Science) (01.10.1993)
Published in Science (American Association for the Advancement of Science) (01.10.1993)
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