Search

Your search keyword '"Tavtigian, Sean"' showing total 158 results
Start Over Author "Tavtigian, Sean" Database Unpaywall
158 results on '"Tavtigian, Sean"'

1. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Author

Richardson, Marcy E., primary, Holdren, Megan, additional, Brannan, Terra, additional, de la Hoya, Miguel, additional, Spurdle, Amanda B., additional, Tavtigian, Sean V., additional, Young, Colin C., additional, Zec, Lauren, additional, Hiraki, Susan, additional, Anderson, Michael J., additional, Walker, Logan C, additional, McNulty Gray, Shannon, additional, Turnbull, Clare, additional, Tischkowitz, Marc, additional, Schon, Katherine, additional, Slavin, Thomas, additional, Foulkes, William D., additional, Cline, Melissa, additional, Monteiro, Alvaro N., additional, Pesaran, Tina, additional, and Couch, Fergus J., additional

Published
2024
Full Text
View/download PDF

2. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Author

Spier, Isabel, primary, Yin, Xiaoyu, additional, Richardson, Marcy, additional, Pineda, Marta, additional, Laner, Andreas, additional, Ritter, Deborah, additional, Boyle, Julie, additional, Mur, Pilar, additional, Hansen, Thomas v O., additional, Shi, Xuemei, additional, Mahmood, Khalid, additional, Plazzer, John-Paul, additional, Ognedal, Elisabet, additional, Nordling, Margareta, additional, Farrington, Susan M., additional, Yamamoto, Gou, additional, Baert-Desurmont, Stéphanie, additional, Martins, Alexandra, additional, Borras, Ester, additional, Tops, Carli, additional, Webb, Erica, additional, Beshay, Victoria, additional, Genuardi, Maurizio, additional, Pesaran, Tina, additional, Capellá, Gabriel, additional, Tavtigian, Sean V., additional, Latchford, Andrew, additional, Frayling, Ian M., additional, Plon, Sharon E., additional, Greenblatt, Marc, additional, Macrae, Finlay A., additional, and Aretz, Stefan, additional

Published
2024
Full Text
View/download PDF

3. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Author

Parsons, Michael T., primary, de la Hoya, Miguel, additional, Richardson, Marcy E., additional, Tudini, Emma, additional, Anderson, Michael, additional, Berkofsky-Fessler, Windy, additional, Caputo, Sandrine, additional, Chan, Raymond C., additional, Cline, Melissa C., additional, Feng, Bing-Jian, additional, Fortuno, Cristina, additional, Gomez-Garcia, Encarna, additional, Hadler, Johanna, additional, Hiraki, Susan, additional, Holdren, Megan, additional, Houdayer, Claude, additional, Hruska, Kathleen, additional, James, Paul, additional, Karam, Rachid, additional, Leong, Huei San, additional, Martins, Alexandra, additional, Mensenkamp, Arjen R., additional, Monteiro, Alvaro N., additional, Nathan, Vaishnavi, additional, O'Connor, Robert, additional, Pesaran, Tina, additional, Radice, Paolo, additional, Schmidt, Gunnar, additional, Sokilde-Pedersen, Inge, additional, Southey, Melissa, additional, Tavtigian, Sean V., additional, Thompson, Bryony A., additional, Toland, Amanda E., additional, Turnbull, Clare, additional, Vogel, Maartje J., additional, Weyandt, Jamie, additional, Wiggins, George A.R., additional, Zec, Lauren, additional, Couch, Fergus J., additional, Walker, Logan, additional, Vreeswijk, Maaike P.G., additional, Goldgar, David E., additional, and Spurdle, Amanda B., additional

Published
2024
Full Text
View/download PDF

6. Correspondence on “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)” by Riggs et al

Author

Spurdle, Amanda B., primary, Drackley, Andrew, additional, Ing, Alexander, additional, Tudini, Emma, additional, Yap, Kai L., additional, and Tavtigian, Sean V., additional

Published
2023
Full Text
View/download PDF

7. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Author

Walker, Logan C., primary, Hoya, Miguel de la, additional, Wiggins, George A.R., additional, Lindy, Amanda, additional, Vincent, Lisa M., additional, Parsons, Michael T., additional, Canson, Daffodil M., additional, Bis-Brewer, Dana, additional, Cass, Ashley, additional, Tchourbanov, Alexander, additional, Zimmermann, Heather, additional, Byrne, Alicia B., additional, Pesaran, Tina, additional, Karam, Rachid, additional, Harrison, Steven M., additional, Spurdle, Amanda B., additional, Biesecker, Leslie G., additional, Tayoun, Ahmad A., additional, Berg, Jonathan S., additional, Brenner, Steven E., additional, Cutting, Garry R., additional, Ellard, Sian, additional, Greenblatt, Marc S., additional, Kang, Peter, additional, Karbassi, Izabela, additional, Karchin, Rachel, additional, Mester, Jessica, additional, O’Donnell-Luria, Anne, additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Strande, Natasha T., additional, Tavtigian, Sean V., additional, and Topper, Scott, additional

Published
2023
Full Text
View/download PDF

8. Supplementary Table 3 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

9. Supplementary Figure 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

10. Supplementary Table 2 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

11. Supplementary Table 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

12. Supplementary Table 3 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

13. Supplementary Figure 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

14. Supplementary Table 2 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

15. Data from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

16. Data from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

17. Supplementary Table 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

Park, Daniel J., primary, Tao, Kayoko, primary, Le Calvez-Kelm, Florence, primary, Nguyen-Dumont, Tu, primary, Robinot, Nivonirina, primary, Hammet, Fleur, primary, Odefrey, Fabrice, primary, Tsimiklis, Helen, primary, Teo, Zhi L., primary, Thingholm, Louise B., primary, Young, Erin L., primary, Voegele, Catherine, primary, Lonie, Andrew, primary, Pope, Bernard J., primary, Roane, Terrell C., primary, Bell, Russell, primary, Hu, Hao, primary, Huff, Chad D., primary, Ellis, Jonathan, primary, Li, Jun, primary, Makunin, Igor V., primary, John, Esther M., primary, Andrulis, Irene L., primary, Terry, Mary B., primary, Daly, Mary, primary, Buys, Saundra S., primary, Snyder, Carrie, primary, Lynch, Henry T., primary, Devilee, Peter, primary, Giles, Graham G., primary, Hopper, John L., primary, Feng, Bing-Jian, primary, Lesueur, Fabienne, primary, Tavtigian, Sean V., primary, Southey, Melissa C., primary, and Goldgar, David E., primary

Published
2023
Full Text
View/download PDF

23. P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Author

Holdren, Megan, primary, Richardson, Marcy, additional, Ritter, Deborah, additional, Young, Colin, additional, Brannan, Terra, additional, Pesaran, Tina, additional, Zec, Lauren, additional, Hiraki, Susan, additional, Anderson, Michael, additional, Southey, Melissa, additional, Turnbull, Clare, additional, Tischkowitz, Marc, additional, Rana, Huma, additional, McNulty Gray, Shannon, additional, Tavtigian, Sean, additional, Walker, Logan, additional, Foulkes, William, additional, Monteiro, Alvaro, additional, Brnich, Sarah, additional, Cline, Melissa, additional, Spurdle, Amanda, additional, de la Hoya, Miguel, additional, and Couch, Fergus, additional

Published
2023
Full Text
View/download PDF

26. P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*

Author

Parsons, Michael, primary, Anderson, Michael, additional, Berkofsky-Fessler, Windy, additional, Caputo, Sandrine, additional, Chan, Raymond, additional, Cline, Melissa, additional, Couch, Fergus, additional, de la Hoya, Miguel, additional, Feng, Bing-Jian, additional, Goldgar, David, additional, Gomez-Garcia, Encarna, additional, Hiraki, Susan, additional, Holdren, Megan, additional, Houdayer, Claude, additional, James, Paul, additional, Karam, Rachid, additional, San Leong, Huei, additional, Martins, Alexandra, additional, Mensenkamp, Arjen, additional, Monteiro, Alvaro, additional, Nathan, Vaishnavi, additional, O'Connor, Robert, additional, Pesaran, Tina, additional, Radice, Paolo, additional, Richardson, Marcy, additional, Schmidt, Gunnar, additional, Pedersen, Inge Sokilde, additional, Southey, Melissa, additional, Tavtigian, Sean, additional, Thompson, Bryony, additional, Toland, Amanda, additional, Tudini, Emma, additional, Turnbull, Clare, additional, Vreeswijk, Maaike, additional, Walker, Logan, additional, Zec, Lauren, additional, and Spurdle, Amanda, additional

Published
2023
Full Text
View/download PDF

27. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Author

Pejaver, Vikas, primary, Byrne, Alicia B., additional, Feng, Bing-Jian, additional, Pagel, Kymberleigh A., additional, Mooney, Sean D., additional, Karchin, Rachel, additional, O’Donnell-Luria, Anne, additional, Harrison, Steven M., additional, Tavtigian, Sean V., additional, Greenblatt, Marc S., additional, Biesecker, Leslie G., additional, Radivojac, Predrag, additional, Brenner, Steven E., additional, Tayoun, Ahmad A., additional, Berg, Jonathan S., additional, Cutting, Garry R., additional, Ellard, Sian, additional, Kang, Peter, additional, Karbassi, Izabela, additional, Mester, Jessica, additional, Pesaran, Tina, additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Strande, Natasha T., additional, and Topper, Scott, additional

Published
2022
Full Text
View/download PDF

29. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions

Author

Clark, Kathleen A., primary, Paquette, Andrew, additional, Tao, Kayoko, additional, Bell, Russell, additional, Boyle, Julie L., additional, Rosenthal, Judith, additional, Snow, Angela K., additional, Stark, Alex W., additional, Thompson, Bryony A., additional, Unger, Joshua, additional, Gertz, Jason, additional, Varley, Katherine E., additional, Boucher, Kenneth M., additional, Goldgar, David E., additional, Foulkes, William D., additional, Thomas, Alun, additional, and Tavtigian, Sean V., additional

Published
2022
Full Text
View/download PDF

31. Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma

Author

Kim, Jung, primary, Light, Nicholas, additional, Subasri, Vallijah, additional, Young, Erin L., additional, Wegman-Ostrosky, Talia, additional, Barkauskas, Donald A., additional, Hall, David, additional, Lupo, Philip J., additional, Patidar, Rajesh, additional, Maese, Luke D., additional, Jones, Kristine, additional, Wang, Mingyi, additional, Genome Research Laboratory, Cancer, additional, Tavtigian, Sean V., additional, Wu, Dongjing, additional, Shlien, Adam, additional, Telfer, Frank, additional, Goldenberg, Anna, additional, Skapek, Stephen X., additional, Wei, Jun S., additional, Wen, Xinyu, additional, Catchpoole, Daniel, additional, Hawkins, Douglas S., additional, Schiffman, Joshua D., additional, Khan, Javed, additional, Malkin, David, additional, and Stewart, Douglas R., additional

Published
2021
Full Text
View/download PDF

34. Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

Author

Brooks, Jennifer, primary, Nabi, Hermann, additional, Andrulis, Irene, additional, Antoniou, Antonis, additional, Chiquette, Jocelyne, additional, Després, Philippe, additional, Devilee, Peter, additional, Dorval, Michel, additional, Droit, Arnaud, additional, Easton, Douglas, additional, Eisen, Andrea, additional, Eloy, Laurence, additional, Fienberg, Samantha, additional, Goldgar, David, additional, Hahnen, Eric, additional, Joly, Yann, additional, Knoppers, Bartha, additional, Lofters, Aisha, additional, Masson, Jean-Yves, additional, Mittmann, Nicole, additional, Paquette, Jean-Sébastien, additional, Pashayan, Nora, additional, Schmutzler, Rita, additional, Stockley, Tracy, additional, Tavtigian, Sean, additional, Walker, Meghan, additional, Wolfson, Michael, additional, Chiarelli, Anna, additional, and Simard, Jacques, additional

Published
2021
Full Text
View/download PDF

39. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

Author

Thompson, Bryony A., primary, Snow, Angela K., additional, Koptiuch, Cathryn, additional, Kohlmann, Wendy K., additional, Mooney, Ryan, additional, Johnson, Sara, additional, Huff, Chad D., additional, Yu, Yao, additional, Teerlink, Craig C., additional, Feng, Bing‐Jian, additional, Neklason, Deborah W., additional, Cannon‐Albright, Lisa A., additional, and Tavtigian, Sean V., additional

Published
2020
Full Text
View/download PDF

40. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Author

Drost, Mark, primary, Tiersma, Yvonne, additional, Glubb, Dylan, additional, Kathe, Scott, additional, van Hees, Sandrine, additional, Calléja, Fabienne, additional, Zonneveld, José B.M., additional, Boucher, Kenneth M., additional, Ramlal, Renuka P.E., additional, Thompson, Bryony A., additional, Rasmussen, Lene Juel, additional, Greenblatt, Marc S., additional, Lee, Andrea, additional, Spurdle, Amanda B., additional, Tavtigian, Sean V., additional, and de Wind, Niels, additional

Published
2020
Full Text
View/download PDF

41. Distinct Molecular Phenotype of Sporadic Colorectal Cancers Among Young Patients Based on Multiomics Analysis

Author

Holowatyj, Andreana N., primary, Gigic, Biljana, additional, Herpel, Esther, additional, Scalbert, Augustin, additional, Schneider, Martin, additional, Ulrich, Cornelia M., additional, Achaintre, David, additional, Brezina, Stefanie, additional, van Duijnhoven, Franzel J.B., additional, Gsur, Andrea, additional, Keski-Rahkonen, Pekka, additional, Weijenberg, Matty P., additional, Abbenhardt-Martin, Clare, additional, Boehm, Juergen, additional, Boucher, Kenneth, additional, Habermann, Nina, additional, Haffa, Mariam, additional, Hardikar, Sheetal, additional, Himbert, Caroline, additional, Kauczor, Hans-Ulrich, additional, Kloor, Matthias, additional, Lampe, Paul D., additional, Lin, Tengda, additional, Ose, Jennifer, additional, Scherer, Dominique, additional, Schirmacher, Peter, additional, Schrotz-King, Petra, additional, von Knebel-Doeberitz, Magnus, additional, Warby, Christy A., additional, Zhang, Yuzheng, additional, Ulrich, Alexis B., additional, Swanson, Eric A., additional, and Tavtigian, Sean V., additional

Published
2020
Full Text
View/download PDF

43. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

Author

Thompson, Bryony A., primary, Snow, Angela K., additional, Koptiuch, Cathryn, additional, Kohlmann, Wendy K., additional, Mooney, Ryan, additional, Johnson, Sara, additional, Huff, Chad, additional, Yu, Yao, additional, Teerlink, Craig C., additional, Feng, Bing-Jian, additional, Neklason, Deborah W., additional, Cannon-Albright, Lisa A., additional, and Tavtigian, Sean V., additional

Published
2019
Full Text
View/download PDF

44. Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on ATM and CHEK2 Breast Cancer Cases and Controls

Author

Young, Colin C., primary, Feng, Bing-Jian, additional, Mackenzie, Colin B., additional, Girard, Elodie, additional, Hu, Donglei, additional, Iwasaki, Yusuke, additional, Momozawa, Yukihide, additional, Lesueur, Fabienne, additional, Ziv, Elad, additional, Neuhausen, Susan L., additional, and Tavtigian, Sean V., additional

Published
2019
Full Text
View/download PDF

45. Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Author

Voskanian, Alin, primary, Katsonis, Panagiotis, additional, Lichtarge, Olivier, additional, Pejaver, Vikas, additional, Radivojac, Predrag, additional, Mooney, Sean D., additional, Capriotti, Emidio, additional, Bromberg, Yana, additional, Wang, Yanran, additional, Miller, Max, additional, Martelli, Pier Luigi, additional, Savojardo, Castrense, additional, Babbi, Giulia, additional, Casadio, Rita, additional, Cao, Yue, additional, Sun, Yuanfei, additional, Shen, Yang, additional, Garg, Aditi, additional, Pal, Debnath, additional, Yu, Yao, additional, Huff, Chad D., additional, Tavtigian, Sean V., additional, Young, Erin, additional, Neuhausen, Susan L., additional, Ziv, Elad, additional, Pal, Lipika R., additional, Andreoletti, Gaia, additional, Brenner, Steven E., additional, and Kann, Maricel G., additional

Published
2019
Full Text
View/download PDF

46. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Author

Parsons, Michael T., primary, Tudini, Emma, additional, Li, Hongyan, additional, Hahnen, Eric, additional, Wappenschmidt, Barbara, additional, Feliubadaló, Lidia, additional, Aalfs, Cora M., additional, Agata, Simona, additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Alonso‐Cerezo, María Concepción, additional, Arnold, Norbert, additional, Auber, Bernd, additional, Austin, Rachel, additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barbieri, Elena, additional, Bartram, Claus R., additional, Blanco, Ana, additional, Blümcke, Britta, additional, Bonache, Sandra, additional, Bonanni, Bernardo, additional, Borg, Åke, additional, Bortesi, Beatrice, additional, Brunet, Joan, additional, Bruzzone, Carla, additional, Bucksch, Karolin, additional, Cagnoli, Giulia, additional, Caldés, Trinidad, additional, Caliebe, Almuth, additional, Caligo, Maria A., additional, Calvello, Mariarosaria, additional, Capone, Gabriele L., additional, Caputo, Sandrine M., additional, Carnevali, Ileana, additional, Carrasco, Estela, additional, Caux‐Moncoutier, Virginie, additional, Cavalli, Pietro, additional, Cini, Giulia, additional, Clarke, Edward M., additional, Concolino, Paola, additional, Cops, Elisa J., additional, Cortesi, Laura, additional, Couch, Fergus J., additional, Darder, Esther, additional, Hoya, Miguel, additional, Dean, Michael, additional, Debatin, Irmgard, additional, Del Valle, Jesús, additional, Delnatte, Capucine, additional, Derive, Nicolas, additional, Diez, Orland, additional, Ditsch, Nina, additional, Domchek, Susan M., additional, Dutrannoy, Véronique, additional, Eccles, Diana M., additional, Ehrencrona, Hans, additional, Enders, Ute, additional, Evans, D. Gareth, additional, Farra, Chantal, additional, Faust, Ulrike, additional, Felbor, Ute, additional, Feroce, Irene, additional, Fine, Miriam, additional, Foulkes, William D., additional, Galvao, Henrique C.R., additional, Gambino, Gaetana, additional, Gehrig, Andrea, additional, Gensini, Francesca, additional, Gerdes, Anne‐Marie, additional, Germani, Aldo, additional, Giesecke, Jutta, additional, Gismondi, Viviana, additional, Gómez, Carolina, additional, Garcia, Encarna B., additional, González, Sara, additional, Grau, Elia, additional, Grill, Sabine, additional, Gross, Eva, additional, Guerrieri‐Gonzaga, Aliana, additional, Guillaud‐Bataille, Marine, additional, Gutiérrez‐Enríquez, Sara, additional, Haaf, Thomas, additional, Hackmann, Karl, additional, Hansen, Thomas V.O., additional, Harris, Marion, additional, Hauke, Jan, additional, Heinrich, Tilman, additional, Hellebrand, Heide, additional, Herold, Karen N., additional, Honisch, Ellen, additional, Horvath, Judit, additional, Houdayer, Claude, additional, Hübbel, Verena, additional, Iglesias, Silvia, additional, Izquierdo, Angel, additional, James, Paul A., additional, Janssen, Linda A.M., additional, Jeschke, Udo, additional, Kaulfuß, Silke, additional, Keupp, Katharina, additional, Kiechle, Marion, additional, Kölbl, Alexandra, additional, Krieger, Sophie, additional, Kruse, Torben A., additional, Kvist, Anders, additional, Lalloo, Fiona, additional, Larsen, Mirjam, additional, Lattimore, Vanessa L., additional, Lautrup, Charlotte, additional, Ledig, Susanne, additional, Leinert, Elena, additional, Lewis, Alexandra L., additional, Lim, Joanna, additional, Loeffler, Markus, additional, López‐Fernández, Adrià, additional, Lucci‐Cordisco, Emanuela, additional, Maass, Nicolai, additional, Manoukian, Siranoush, additional, Marabelli, Monica, additional, Matricardi, Laura, additional, Meindl, Alfons, additional, Michelli, Rodrigo D., additional, Moghadasi, Setareh, additional, Moles‐Fernández, Alejandro, additional, Montagna, Marco, additional, Montalban, Gemma, additional, Monteiro, Alvaro N., additional, Montes, Eva, additional, Mori, Luigi, additional, Moserle, Lidia, additional, Müller, Clemens R., additional, Mundhenke, Christoph, additional, Naldi, Nadia, additional, Nathanson, Katherine L., additional, Navarro, Matilde, additional, Nevanlinna, Heli, additional, Nichols, Cassandra B., additional, Niederacher, Dieter, additional, Nielsen, Henriette R., additional, Ong, Kai‐ren, additional, Pachter, Nicholas, additional, Palmero, Edenir I., additional, Papi, Laura, additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Perez‐Segura, Pedro, additional, Pfeifer, Katharina, additional, Pineda, Marta, additional, Pohl‐Rescigno, Esther, additional, Poplawski, Nicola K., additional, Porfirio, Berardino, additional, Quante, Anne S., additional, Ramser, Juliane, additional, Reis, Rui M., additional, Revillion, Françoise, additional, Rhiem, Kerstin, additional, Riboli, Barbara, additional, Ritter, Julia, additional, Rivera, Daniela, additional, Rofes, Paula, additional, Rump, Andreas, additional, Salinas, Monica, additional, Sánchez de Abajo, Ana María, additional, Schmidt, Gunnar, additional, Schoenwiese, Ulrike, additional, Seggewiß, Jochen, additional, Solanes, Ares, additional, Steinemann, Doris, additional, Stiller, Mathias, additional, Stoppa‐Lyonnet, Dominique, additional, Sullivan, Kelly J., additional, Susman, Rachel, additional, Sutter, Christian, additional, Tavtigian, Sean V., additional, Teo, Soo H., additional, Teulé, Alex, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Tischkowitz, Marc, additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Tornero, Eva, additional, Törngren, Therese, additional, Torres‐Esquius, Sara, additional, Toss, Angela, additional, Trainer, Alison H., additional, Tucker, Katherine M., additional, Asperen, Christi J., additional, Mackelenbergh, Marion T., additional, Varesco, Liliana, additional, Vargas‐Parra, Gardenia, additional, Varon, Raymonda, additional, Vega, Ana, additional, Velasco, Ángela, additional, Vesper, Anne‐Sophie, additional, Viel, Alessandra, additional, Vreeswijk, Maaike P. G., additional, Wagner, Sebastian A., additional, Waha, Anke, additional, Walker, Logan C., additional, Walters, Rhiannon J., additional, Wang‐Gohrke, Shan, additional, Weber, Bernhard H. F., additional, Weichert, Wilko, additional, Wieland, Kerstin, additional, Wiesmüller, Lisa, additional, Witzel, Isabell, additional, Wöckel, Achim, additional, Woodward, Emma R., additional, Zachariae, Silke, additional, Zampiga, Valentina, additional, Zeder‐Göß, Christine, additional, Investigators, KConFab, additional, Lázaro, Conxi, additional, Nicolo, Arcangela, additional, Radice, Paolo, additional, Engel, Christoph, additional, Schmutzler, Rita K., additional, Goldgar, David E., additional, and Spurdle, Amanda B., additional

Published
2019
Full Text
View/download PDF

47. A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Author

Drost, Mark, primary, Tiersma, Yvonne, additional, Thompson, Bryony A., additional, Frederiksen, Jane H., additional, Keijzers, Guido, additional, Glubb, Dylan, additional, Kathe, Scott, additional, Osinga, Jan, additional, Westers, Helga, additional, Pappas, Lisa, additional, Boucher, Kenneth M., additional, Molenkamp, Siska, additional, Zonneveld, José B., additional, van Asperen, Christi J., additional, Goldgar, David E., additional, Wallace, Susan S., additional, Sijmons, Rolf H., additional, Spurdle, Amanda B., additional, Rasmussen, Lene J., additional, Greenblatt, Marc S., additional, de Wind, Niels, additional, and Tavtigian, Sean V., additional

Published
2019
Full Text
View/download PDF

48. Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Author

Spurdle, Amanda B, primary, Greville-Heygate, Stephanie, additional, Antoniou, Antonis C, additional, Brown, Melissa, additional, Burke, Leslie, additional, de la Hoya, Miguel, additional, Domchek, Susan, additional, Dörk, Thilo, additional, Firth, Helen V, additional, Monteiro, Alvaro N, additional, Mensenkamp, Arjen, additional, Parsons, Michael T, additional, Radice, Paolo, additional, Robson, Mark, additional, Tischkowitz, Marc, additional, Tudini, Emma, additional, Turnbull, Clare, additional, Vreeswijk, Maaike PG, additional, Walker, Logan C, additional, Tavtigian, Sean, additional, and Eccles, Diana M, additional

Published
2019
Full Text
View/download PDF

49. A quantitative model to predict pathogenicity of missense variants in the TP53 gene

Author

Fortuno, Cristina, primary, Cipponi, Arcadi, additional, Ballinger, Mandy L., additional, Tavtigian, Sean V., additional, Olivier, Magali, additional, Ruparel, Vatsal, additional, Haupt, Ygal, additional, Haupt, Sue, additional, Study, International Sarcoma Kindred, additional, Tucker, Kathy, additional, Spurdle, Amanda B., additional, Thomas, David M., additional, and James, Paul A., additional

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results