Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Stephen E, Lincoln"'
Autor:
Kristy R. Crooks, Kelly D. Farwell Hagman, Diana Mandelker, Avni Santani, Ryan J. Schmidt, Robyn L. Temple-Smolkin, Stephen E. Lincoln
Publikováno v:
The Journal of Molecular Diagnostics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4c45af596762a47c98238ec0e574f79
https://doi.org/10.1016/j.jmoldx.2023.03.012
https://doi.org/10.1016/j.jmoldx.2023.03.012
Autor:
Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan
Percentage of somatic variants based on 6 mutation types in Asian lung cancers.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45dce352d0eaf466ce951ada5f494ef6
https://doi.org/10.1158/0008-5472.22401582.v1
https://doi.org/10.1158/0008-5472.22401582.v1
Autor:
Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan
Clinical and tissue information on 30 lung cancer patients (S1); Recurrent somatic variants based on presence of the same variant in the COSMIC database or presence of the same variant within the dataset (S2); Variants of the category 'three or more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51477059a67d33d12c240560c586f66c
https://doi.org/10.1158/0008-5472.22401579.v1
https://doi.org/10.1158/0008-5472.22401579.v1
Autor:
Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan
Asian nonsmoking populations have a higher incidence of lung cancer compared with their European counterparts. There is a long-standing hypothesis that the increase of lung cancer in Asian never-smokers is due to environmental factors such as second-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5be768aae2c157cef8b067bfc6eec390
https://doi.org/10.1158/0008-5472.c.6505890
https://doi.org/10.1158/0008-5472.c.6505890
Autor:
Pauline C. Ng, Axel M. Hillmer, Patrick Tan, Thomas D. Barber, Geoffrey B. Nilsen, Jason M. Laramie, Dennis G. Ballinger, Stephen E. Lincoln, Brock A. Peters, Daniel S.W. Tan, Christoph Reinhard, Shenli Zhang, Kun Yu, Joanna H.J. Tan, Yuhao Lin, Gary S.L. Loh, Xiwen Ma, Hui-Hoon Chua, Yong G. Yue, Audrey S.M. Teo, Swee-Seong Wong, Elaine Lim, Jason C. Ting, Philip J. Ebert, Vidhya G. Krishnan
Legend for Supplementary Figures S1-S2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a845a616e2bc05351e5429df3d688fd
https://doi.org/10.1158/0008-5472.22401588.v1
https://doi.org/10.1158/0008-5472.22401588.v1
Autor:
Megan H. Cleveland, Shazia Mahamdallie, Brian H. Shirts, Stephen F. Kingsmore, Nazneen Rahman, Eric W. Klee, Farol L. Tomson, Swaroop Aradhya, Kathryn E. Hatchell, Wasanthi DeSilva, Sara L. Bristow, Tina Hambuch, Sheila Seal, Michael Kennemer, Matthew J. Ferber, Shimul Chowdhury, Peter M. Vallone, Andrew Fellowes, Russell Garlick, Justin M. Zook, Robert L. Nussbaum, Yan Ding, Rebecca Truty, Marc L. Salit, Catherine Huang, Stephen E. Lincoln
Publikováno v:
Genetics in Medicine
PurposeTo evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small CNVs, complex alterations, and variants in lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba13623212faa2e5f9782daac0df4e0
https://doi.org/10.1038/s41436-021-01187-w
https://doi.org/10.1038/s41436-021-01187-w
Autor:
Whitney, Espinel, Marjan, Champine, Heather, Hampel, Joanne, Jeter, Kevin, Sweet, Robert, Pilarski, Rachel, Pearlman, Kate, Shane, Pamela, Brock, Judith A, Westman, Lindsay, Kipnis, Jilliane, Sotelo, Anu, Chittenden, Samantha, Culver, Jill E, Stopfer, Katherine A, Schneider, Rosalba, Sacca, Diane R, Koeller, Shraddha, Gaonkar, Erica, Vaccari, Sarah, Kane, Scott T, Michalski, Shan, Yang, Sarah M, Nielsen, Sara L, Bristow, Stephen E, Lincoln, Robert L, Nussbaum, Edward D, Esplin
Publikováno v:
Cancers. 14(10)
Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::24cf0bd64bd4582859098cbce772d872
https://pubmed.ncbi.nlm.nih.gov/35626031
https://pubmed.ncbi.nlm.nih.gov/35626031
Publikováno v:
Cancer Research. 80:P6-08
Background: A variety of studies have examined the prevalence of germline mutations in patients undergoing genetic testing for a wide variety of breast cancer predisposition genes. Many of these studies have focused on patients of Northern European d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e561d0e848048218fccabf857cc658a0
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-19
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-19
Autor:
Heidi L. Rehm, Stephen E. Lincoln, Matthew S. Lebo, Vincent H. Ramey, Chiao-Feng Lin, Rebecca Truty, Marc L. Salit, Justin M. Zook, Joshua S. Paul, Robert L. Nussbaum
Publikováno v:
The Journal of molecular diagnostics : JMD
Orthogonal confirmation of next-generation sequencing (NGS)-detected germline variants is standard practice, although published studies have suggested that confirmation of the highest-quality calls may not always be necessary. The key question is how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24221f9d491dfde63c4ef6d2b83086ab
https://doi.org/10.1016/j.jmoldx.2018.10.009
https://doi.org/10.1016/j.jmoldx.2018.10.009
Autor:
Karen H. Miga, Christopher E. Mason, Aaron M. Wenger, Arkarachai Fungtammasan, Yiming Zhu, Nathan D. Olson, Justin M. Zook, David Jáspez, Sayed Mohammad Ebrahim Sahraeian, Haoyu Cheng, William J Rowell, Chunlin Xiao, Giuseppe Narzisi, Lindsay Harris, Aishwarya Pisupati, Justin Wagner, Byunggil Yoo, Wayne E. Clarke, Joyce V. Lee, Fritz J. Sedlazeck, Chen-Shan Chin, Richa Gupta, Yih-Chii Hwang, Alaina Shumate, José M. Lorenzo-Salazar, Jesse Farek, Carlos Flores, Jennifer McDaniel, Uday Shanker Evani, Heng Li, Stephen E Lincoln, Danny E. Miller, Luis A. Rubio-Rodríguez, Medhat Mahmoud, Adrián Muñoz-Barrera, Ziad Khan, Mark T. W. Ebbert
The repetitive nature and complexity of multiple medically important genes make them intractable to accurate analysis, despite the maturity of short-read sequencing, resulting in a gap in clinical applications of genome sequencing. The Genome in a Bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::babb05888afcf9ebf6df1646e472ede3
https://doi.org/10.1101/2021.06.07.444885
https://doi.org/10.1101/2021.06.07.444885