未登录 分享 收藏
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS) Zhou, Amy; Rand, Casey M.; Hockney, Sara M.; Niewijk, Grace; Reineke, Patrick; Speare, Virginia; Berry-Kravis, Elizabeth M.; Zhou, Lili; Jennings, Lawrence J.; Yu, Min; Ceccherini, Isabella; Bachetti, Tiziana; Pennock, Melanie; Yap, Kai Lee; Weese-Mayer, Debra E. 分享 收藏
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative Lau-Min, Kelsey S.; Asher, Stephanie Byers; Chen, Jessica; Domchek, Susan M.; Feldman, Michael; Joffe, Steven; Landgraf, Jeffrey; Speare, Virginia; Varughese, Lisa A.; Tuteja, Sony; VanZandbergen, Christine; Ritchie, Marylyn D.; Nathanson, Katherine L. 分享 收藏
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer Hartman, Tiffiney R.; Demidova, Elena, V; Lesh, Randy W.; Hoang, Lily; Richardson, Marcy; Forman, Andrea; Kessler, Lisa; Speare, Virginia; Golemis, Erica A.; Hall, Michael J.; Daly, Mary B.; Arora, Sanjeevani 分享 收藏
Genotype-phenotype associations among panel-based TP53+ subjects Rana, Huma Q.; Clifford, Jacob; Hoang, Lily; LaDuca, Holly; Black, Mary Helen; Li, Shuwei; McGoldrick, Kelly; Speare, Virginia; Dolinsky, Jill S.; Gau, Chia-Ling; Garber, Judy E. 分享 收藏
分享 收藏
Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma Peters, Mary Linton B.; Stobie, Lindsey; Dudley, Beth; Karloski, Eve; Allen, Kyle; Speare, Virginia; Dolinsky, Jill S.; Tian, Yuan; DeLeonardis, Kim; Krejdovsky, Jill; Button, Arlene; Lim, Cynthia; Borazanci, Erkut; Brand, Randall; Tung, Nadine 分享 收藏
Prevalence of germline variants in inflammatory breast cancer 炎性乳腺癌中生殖系变异的患病率 Rana, Huma Q.; Sacca, Rosalba; Drogan, Christine; Gutierrez, Stephanie; Schlosnagle, Emily; Regan, Meredith M.; Speare, Virginia; LaDuca, Holly; Dolinsky, Jill; Garber, Judy E.; Overmoyer, Beth A. 分享 收藏
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis Powis, Zoe; Hagman, Kelly D. Farwell; Speare, Virginia; Cain, Taylor; Blanco, Kirsten; Mowlavi, Layla S.; Mayerhofer, Emily M.; Tilstra, David; Vedder, Timothy; Hunter, Jesse M.; Tsang, Marilyn; Gonzalez, Lina; Vockley, Gerald; Tang, Sha 分享 收藏
Somatic TP53 variants frequently confound germ-line testing results 体细胞TP53变异经常混淆种系检测结果 Weitzel, Jeffrey N.; Chao, Elizabeth C.; Nehoray, Bita; Van Tongeren, Lily R.; LaDuca, Holly; Blazer, Kathleen R.; Slavin, Thomas; Pesaran, Tina; Rybak, Christina; Solomon, Ilana; Niell-Swiller, Mariana; Dolinsky, Jill S.; Castillo, Danielle; Elliott, Aaron; Gau, Chia-Ling; Speare, Virginia; Jasperson, Kory 分享 收藏
Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinoma 胰腺腺癌发病病例种系基因检测的前瞻性研究 Brand, Randall; Borazanci, Erkut; Speare, Virginia; Dudley, Beth; Karloski, Eve; Peters, Mary Linton B.; Stobie, Lindsey; Bahary, Nathan; Zeh, Herbert; Zureikat, Amer; Hogg, Melissa; Lee, Kenneth; Tsung, Allan; Rhee, John; Ohr, James; Sun, Weijing; Lee, James; Moser, A. James; DeLeonardis, Kim; Krejdovsky, Jill; Dalton, Emily; LaDuca, Holly; Dolinsky, Jill; Colvin, Arlene; Lim, Cynthia; Black, Mary Helen; Tung, Nadine 分享 收藏
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing Rana, Huma Q.; Gelman, Rebecca; LaDuca, Holly; McFarland, Rachel; Dalton, Emily; Thompson, Jennifer; Speare, Virginia; Dolinsky, Jill S.; Chao, Elizabeth C.; Garber, Judy E. 分享 收藏
分享 收藏
PREVALENCE OF GERMLINE MUTATIONS IN CONSECUTIVE, UNSELECTED PATIENTS WITH NEWLY DIAGNOSED ADENOCARCINOMA OF THE PANCREAS 在连续的，未经选择的新诊断的胰腺腺癌患者中种系突变的患病率 Brand, Randall; Tung, Nadine; Dudley, Beth; Karloski, Eve; Peters, Mary Linton B.; Stobie, Lindsey; Borazanci, Erkut; Moser, A. J.; Colvin, Arlene; Lim, Cynthia; Hogg, Melissa E.; Lee, Kenneth; Marsh, J. Wallis; Tsung, Allan; Zeh, Herbert J.; Zureikat, Amer H.; Grosvenor, Courtney; Davis, Brigette Tippin T.; LaDuca, Holly; Dolinsky, Jill; Dalton, Emily; Black, Mary Helen; Speare, Virginia 分享 收藏
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients LaDuca, Holly; Stuenkel, A. J.; Dolinsky, Jill S.; Keiles, Steven; Tandy, Stephany; Pesaran, Tina; Chen, Elaine; Gau, Chia-Ling; Palmaer, Erika; Shoaepour, Kamelia; Shah, Divya; Speare, Virginia; Gandomi, Stephanie; Chao, Elizabeth 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}
