-
1دورية أكاديمية
المؤلفون: Cody J. Steely, Kristi L. Russell, Julie E. Feusier, Yi Qiao, Sean V. Tavtigian, Gabor Marth, Lynn B. Jorde
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
2دورية أكاديمية
المؤلفون: Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
مصطلحات موضوعية: Functional assays, Guidelines, Variant interpretation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
-
3دورية أكاديمية
المؤلفون: Lisa A. Cannon‐Albright, Craig C. Teerlink, Jeffrey Stevens, Angela K. Snow, Bryony A. Thompson, Russell Bell, Kim N. Nguyen, Nykole R. Sargent, Wendy K. Kohlmann, Deborah W. Neklason, Sean V. Tavtigian
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
مصطلحات موضوعية: colorectal cancer, FANCM, high‐risk pedigree, UPDB, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
-
4دورية أكاديمية
المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Erin L. Young, Bryony A. Thompson, Deborah W. Neklason, Matthew A. Firpo, Theresa Werner, Russell Bell, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh Neumayer, David E. Goldgar, Sean J. Mulvihill, Lisa A. Cannon-Albright, Sean V. Tavtigian
المصدر: BMC Cancer, Vol 18, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: HBOC, Lynch syndrome, Colorectal cancer, Pancreatic cancer, Genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
-
6دورية أكاديمية
المؤلفون: Jennifer D. Brooks, Hermann Nabi, Irene L. Andrulis, Antonis C. Antoniou, Jocelyne Chiquette, Philippe Després, Peter Devilee, Michel Dorval, Arnaud Droit, Douglas F. Easton, Andrea Eisen, Laurence Eloy, Samantha Fienberg, David Goldgar, Eric Hahnen, Yann Joly, Bartha Maria Knoppers, Aisha Lofters, Jean-Yves Masson, Nicole Mittmann, Jean-Sébastien Paquette, Nora Pashayan, Rita Schmutzler, Tracy Stockley, Sean V. Tavtigian, Meghan J. Walker, Michael Wolfson, Anna Maria Chiarelli, Jacques Simard
المصدر: Journal of Personalized Medicine, Vol 11, Iss 6, p 511 (2021)
مصطلحات موضوعية: breast cancer, screening, risk prediction, risk stratification, Medicine
وصف الملف: electronic resource
-
7
المؤلفون: Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Ahmad A. Tayoun, Jonathan S. Berg, Garry R. Cutting, Sian Ellard, Peter Kang, Izabela Karbassi, Jessica Mester, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Scott Topper
المصدر: The American Journal of Human Genetics. 109:2163-2177
مصطلحات موضوعية: Consensus, Virulence, Calibration, Genetics, Humans, Educational Status, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d921f44375e47e5baccb6ef134edc1
https://doi.org/10.1016/j.ajhg.2022.10.013 -
8
المؤلفون: Abhijit Rath, Alexander A. Radecki, Kaussar Rahman, Rachel B. Gilmore, Jonathan R. Hudson, Matthew Cenci, Sean V. Tavtigian, James P. Grady, Christopher D. Heinen
المصدر: Human Mutation. 43:2295-2307
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
9
المؤلفون: David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, Daniel J. Park
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0901f03f8caef7fce50cb83dbd9ef89
https://doi.org/10.1158/2159-8290.22530813 -
10
المؤلفون: David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, Daniel J. Park
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09898e47421a05a698c0658e73cdd3dc
https://doi.org/10.1158/2159-8290.22530822