未登录 Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants 用于分析种系ATM序列变体的ACMG/AMP变体管理指南的规范 Richardson, Marcy E.; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B.; V. Tavtigian, Sean; Young, Colin C.; Zec, Lauren; Hiraki, Susan; Anderson, Michael J.; Walker, Logan C.; Mcnulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D.; Cline, Melissa; Monteiro, Alvaro N.; Pesaran, Tina; Couch, Fergus J. 分享 收藏
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation Hatton, Jessica N.; Frone, Megan N.; Cox, Hannah C.; Crowley, Stephanie B.; Hiraki, Susan; Yokoyama, Noriko N.; Abul-Husn, Noura S.; Amatruda, James F.; Anderson, Michael J.; Bofill-De Ros, Xavier; Carr, Ann G.; Chao, Elizabeth C.; Chen, Kenneth S.; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritter, Deborah; Schultz, Kris Ann P.; Soper, Emily R.; Wu, Mona K.; Mester, Jessica L.; Kim, Jung; Foulkes, William D.; Witkowski, Leora; Stewart, Douglas R. 分享 收藏
Germline pathogenic SMARCA4 variants in neuroblastoma 神经母细胞瘤中的生殖系致病性SMARCA4变体 Witkowski, Leora; Nichols, Kim E.; Jongmans, Marjolijn; van Engelen, Nienke; de Krijger, Ronald R.; Herrera-Mullar, Jennifer; Tytgat, Lieve; Bahrami, Armita; Fan, Helen Mar; Davidson, Aimee L.; Robertson, Thomas; Anderson, Michael; Hasselblatt, Martin; Plon, Sharon E.; Foulkes, William D. 分享 收藏
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines 通过CDH1-specific种系变异管理优化临床护理: 改善临床断言和更新管理指南 Luo, Xi; Maciaszek, Jamie L.; Thompson, Bryony A.; San Leong, Huei; Dixon, Katherine; Sousa, Sonia; Anderson, Michael; Roberts, Maegan E.; Lee, Kristy; Spurdle, Amanda B.; Mensenkamp, Arjen R.; Brannan, Terra; Pardo, Carolina; Zhang, Liying; Pesaran, Tina; Wei, Sainan; Fasaye, Grace-Ann; Kesserwan, Chimene; Shirts, Brian H.; Davis, Jeremy L.; Oliveira, Carla; Plon, Sharon E.; Schrader, Kasmintan A.; Karam, Rachid 分享 收藏
Ultraviolet-C Light Evaluation as Adjunct Disinfection to Remove Multidrug-Resistant Organisms Rock, Clare; Hsu, Yea-Jen; Curless, Melanie S.; Carroll, Karen C.; Ross Howard, Tracy; Carson, Kathryn A.; Cummings, Stephanie; Anderson, Michael; Milstone, Aaron M.; Maragakis, Lisa L. 分享 收藏
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Toxicity of Refugio Beach Oil to Sand Crabs (Emerita analoga), Blue Mussels (Mytilus sp.), and Inland Silversides (Menidia beryllina) Donohoe, Regina M.; Duke, Bryand M.; Clark, Stephen L.; Joab, Bruce M.; Dugan, Jenifer E.; Hubbard, David M.; DaSilva, April R.; Anderson, Michael J. 分享 收藏
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer Clark, Dana Farengo; Michalski, Scott T.; Tondon, Rashmi; Nehoray, Bita; Ebrahimzadeh, Jessica; Hughes, Sarah Kate; Soper, Emily R.; Domchek, Susan M.; Rustgi, Anil K.; Pineda-Alvarez, Daniel; Anderson, Michael J.; Katona, Bryson W. 分享 收藏
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (vol 74, pg 258, 2019) Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott; Aguilar, Sienna; Aradhya, Swaroop; Beltran, Daniel; Bunker, Brandon; Daly, Amy; Deucher, Anne; Ekstein, Tali; Entezam, Ali; Erhard, Karl; Esplin, Ed; Fulbright, Jennifer; Fuller, Amy; Gibson, Kristen McDonald; Hambuch, Tina; Harte, Rachel; Hartshorne, Christy; Haverfield, Eden; Heidari, Nastaran; Hogue, Michelle; Iacoboni, Daniela; Johnson, Britt; Kang, Hio Chung; Lewis, Rachel; Martin, Shiloh; McCalmon, Sarah; Michalski, Scott; Morgan, Cindy; Murillo, Laura; Nicolosi, Piper; Ouyang, Karen; Pardo, Carolina; Quintana, Rita; Rabideau, Marina; Riethmaier, Darlene; Stafford, Amanda; Tahiliani, Jackie; Tan, Chris; Taylor, S. Paige; Wang, Shu-Huei; White, Hannah; Wilson, Ian; Winder, Tom; Zeman, Michelle K. 分享 收藏
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants Lee, Kristy; Krempely, Kate; Roberts, Maegan E.; Anderson, Michael J.; Carneiro, Fatima; Chao, Elizabeth; Dixon, Katherine; Figueiredo, Joana; Ghosh, Rajarshi; Huntsman, David; Kaurah, Pardeep; Kesserwan, Chimene; Landrith, Tyler; Li, Shuwei; Mensenkamp, Arjen R.; Oliveira, Carla; Pardo, Carolina; Pesaran, Tina; Richardson, Matthew; Slavin, Thomas P.; Spurdle, Amanda B.; Trapp, Mackenzie; Witkowski, Leora; Yi, Charles S.; Zhang, Liying; Plon, Sharon E.; Schrader, Kasmintan A.; Karam, Rachid 分享 收藏
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria Sherloc: acmg-amp变体分类标准的综合改进 Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott 分享 收藏
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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. 分享 收藏
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Molecular weight sensing properties of ionic liquid-polymer composite films: theory and experiment Regmi, Bishnu P.; Speller, Nicholas C.; Anderson, Michael J.; Brutus, Jean Olivier; Merid, Yonathan; Das, Susmita; El-Zahab, Bilal; Hayes, Daniel J.; Murray, Kermit K.; Warner, Isiah M. 分享 收藏
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Interrogation of Related Clinical Pan-Azole-Resistant Aspergillus fumigatus Strains: G138C, Y431C, and G434C Single Nucleotide Polymorphisms in cyp51A, Upregulation of cyp51A, and Integration and Activation of Transposon Atf1 in the cyp51A Promoter Albarrag, Ahmed M.; Anderson, Michael J.; Howard, Susan J.; Robson, Geoff D.; Warn, Peter A.; Sanglard, Dominique; Denning, David W. 分享 收藏
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