未登录 Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas v. O.; Pineda, Marta; Ritter, Deborah; de Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capella, Gabriel; Latchford, Andrew; Tavtigian, Sean, V; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan 分享 收藏
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations 评估经校准的PP3/BP4计算建议的证据产量 Stenton, Sarah L.; Pejaver, Vikas; Bergquist, Timothy; Biesecker, Leslie G.; Byrne, Alicia B.; Nadeau, Emily A. W.; Greenblatt, Marc S.; Harrison, Steven M.; Tavtigian, Sean, V; Radivojac, Predrag; Brenner, Steven E.; O'Donnell-Luria, Anne 分享 收藏
分享 收藏
分享 收藏
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis Variant Curation Expert Panel Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V. O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stephanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capella, Gabriel; Tavtigian, Sean, V; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan 分享 收藏
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database 接受早期癌症诊断和治疗监测的致病性错配修复基因变异携带者的年龄，基因和性别死亡率: 前瞻性Lynch综合征数据库的报告 Dominguez-Valentin, Mev; Haupt, Saskia; Seppala, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Debniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lor H.; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S.; Horisberger, Karoline; Tibiletti, Maria Grazia; do Nascimento, Ivana; Thomas, Huw; Rossi, Norma Teresa; da Silva, Leandro Apolinario; Zarand, Attila; Ruiz-Banobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistoe, Anna; Peltomaeki, Paeivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Schroeck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hueneburg, Robert; Redler, Silke; Buettner, Reinhard; Weitz, Jurgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sanchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; ten Broeke, Sanne W.; Kariv, Revital; Rosner, Guy; Advani, Suresh H.; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pal 分享 收藏
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria Pejaver, Vikas; Byrne, Alicia B.; Feng, Bing-Jian; Pagel, Kymberleigh A.; Mooney, Sean D.; Karchin, Rachel; O'Donnell-Luria, Anne; Harrison, Steven M.; Tavtigian, Sean, V; Greenblatt, Marc S.; Biesecker, Leslie G.; Radivojac, Predrag; Brenner, Steven E. 分享 收藏
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Juergen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; ten Broeke, Sanne W.; Mecklin, Jukka-Pekka; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomaki, Paivi; Hopper, John L.; Win, Aung Ko; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moslein, Gabriela; Seppala, Toni T.; Moller, Pal 分享 收藏
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report Seppala, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G.; Cavestro, Giulia M.; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vida, Joan B.; Kariv, Revital; Rosner, Guy; Pinero, Tamara A.; Pavicic, Walter; Kalfayan, Pablo; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Redler, Silke; Weitz, Jurgen; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Hopper, John L.; Win, Aung K.; Lindor, Noralane M.; Gallinger, Steven; Marchand, Loic Le; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Wadt, Karin A. W.; Mourits, Marian J. E.; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar A.; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Rokkones, Erik; Sampson, Julian R.; Evans, D. G.; Moller, Pal 分享 收藏
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Brunet Vidal, Joan; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Jurgen; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppala, Toni T.; Moller, Pal 分享 收藏
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (vol 22, pg 15, 2020) Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; de Vos tot Nederveen Cappel, Wouter H.; Sijmons, Rolf H.; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buttner, Reinhard; Gorgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Huneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Denton, Oliver G.; Frayling, Ian M.; Rodland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, Maria Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M.; Macrae, Finlay; Moslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje; Moller, Pal 分享 收藏
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome Drost, Mark; Tiersma, Yvonne; Glubb, Dylan; Kathe, Scott; van Hees, Sandrine; Calleja, Fabienne; Zonneveld, Jose B. M.; Boucher, Kenneth M.; Ramlal, Renuka P. E.; Thompson, Bryony A.; Rasmussen, Lene Juel; Greenblatt, Marc S.; Lee, Andrea; Spurdle, Amanda B.; Tavtigian, Sean V.; de Wind, Niels 分享 收藏
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database 6350致病性错配修复变异体携带者的基因、年龄和性别的癌症风险: 来自前瞻性Lynch综合征数据库的发现 Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; de Vos Tot Nederveen Cappel, Wouter H.; Sijmons, Rolf H.; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Denton, Oliver G.; Frayling, Ian M.; Rodland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, Maria Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M.; Macrae, Finlay; Moeslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje; Moller, Pal 分享 收藏
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework Seifert, Bryce A.; McGlaughon, Jennifer L.; Jackson, Sarah A.; Ritter, Deborah I.; Roberts, Maegan E.; Schmidt, Ryan J.; Thompson, Bryony A.; Jimenez, Sharisse; Trapp, Mackenzie; Lee, Kristy; Plon, Sharon E.; Offit, Kenneth; Stadler, Zsofia K.; Zhang, Liying; Greenblatt, Marc S.; Ferber, Matthew J. 分享 收藏
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome 一种基于功能分析的程序，用于对Lynch综合征中的错配修复基因变异进行分类 Drost, Mark; Tiersma, Yvonne; Thompson, Bryony A.; Frederiksen, Jane H.; Keijzers, Guido; Glubb, Dylan; Kathe, Scott; Osinga, Jan; Westers, Helga; Pappas, Lisa; Boucher, Kenneth M.; Molenkamp, Siska; Zonneveld, Jose B.; van Asperen, Christi J.; Goldgar, David E.; Wallace, Susan S.; Sijmons, Rolf H.; Spurdle, Amanda B.; Rasmussen, Lene J.; Greenblatt, Marc S.; de Wind, Niels; Tavtigian, Sean V. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
HGVS Recommendations for the Description of Sequence Variants: 2016 Update 序列变异描述的HGVS建议: 2016更新 den Dunnen, Johan T.; Dalgleish, Raymond; Maglott, Donna R.; Hart, Reece K.; Greenblatt, Marc S.; McGowan-Jordan, Jean; Roux, Anne-Francoise; Smith, Timothy; Antonarakis, Stylianos E.; Taschner, Peter E. M. 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
