未登录 A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations 一种以基因型为首要方法，识别出具有不同疾病关联的高发生率NF1致病性变异。 Safonov, Anton; Nomakuchi, Tomoki T.; Chao, Elizabeth; Horton, Carrie; Dolinsky, Jill S.; Yussuf, Amal; Speare, Virginia; Li, Shuwei; Bogus, Zoe C.; Bonanni, Maria; Raper, Anna; Odia, Trust; Wubbenhorst, Bradley S.; Faulders, Elsa; Schuth, Elisabeth M.; Loranger, Kate; Zhang, Jingwen; Scalise, Carly Bess; ElNaggar, Adam; Sha, Youbao; Felker, Stephanie A.; Weitzel, Jeffrey; Kallish, Staci; Ritchie, Marylyn D.; Nathanson, Katherine L.; Drivas, Theodore G. 分享 收藏
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana 分享 收藏
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C 意义不确定的变体的功能和临床表征确定了RAD51C中失活错义变体的热点 Hu, Chunling; Nagaraj, Anil Belur; Shimelis, Hermela; Montalban, Gemma; Lee, Kun Y.; Huang, Huaizhi; Lumby, Carolyn A.; Na, Jie; Susswein, Lisa R.; Roberts, Maegan E.; Marshall, Megan L.; Hiraki, Susan; LaDuca, Holly; Chao, Elizabeth; Yussuf, Amal; Pesaran, Tina; Neuhausen, Susan L.; Haiman, Christopher A.; Kraft, Peter; Lindstrom, Sara; Palmer, Julie R.; Teras, Lauren R.; Vachon, Celine M.; Yao, Song; Ong, Irene; Nathanson, Katherine L.; Weitzel, Jeffrey N.; Boddicker, Nicholas; Gnanaolivu, Rohan; Polley, Eric C.; Mer, Georges; Cui, Gaofeng; Karam, Rachid; Richardson, Marcy E.; Domchek, Susan M.; Yadav, Siddhartha; Hruska, Kathleen S.; Dolinsky, Jill; Weroha, S. John; Hart, Steven N.; Simard, Jacques; Masson, Jean Yves; Pang, Yuan-Ping; 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
Application of RNA sequencing evidence improves equity in variant interpretation Horton, Carolyn; Hoang, Lily; LaDuca, Holly; Lo, Min-Tzu; Zimmermann, Heather; Cass, Ashley; Conner, Blair; Abualkheir, Nelly; Grzybowski, Jessica; Durda, Kate; Pilarski, Robert; Chao, Elizabeth; Karam, Rachid 分享 收藏
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) Rehder, Catherine; Bean, Lora J. H.; Bick, David; Chao, Elizabeth; Chung, Wendy; Das, Soma; O'Daniel, Julianne; Rehm, Heidi; Shashi, Vandana; Vincent, Lisa M. 分享 收藏
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance Richardson, Marcy E.; Hu, Chunling; Lee, Kun Y.; LaDuca, Holly; Fulk, Kelly; Durda, Kate M.; Deckman, Ashley M.; Goldgar, David E.; Monteiro, Alvaro N. A.; Gnanaolivu, Rohan; Hart, Steven N.; Polley, Eric C.; Chao, Elizabeth; Pesaran, Tina; Couch, Fergus J. 分享 收藏
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer Yadav, Siddhartha; LaDuca, Holly; Polley, Eric C.; Hu, Chunling; Niguidula, Nancy; Shimelis, Hermela; Lilyquist, Jenna; Na, Jie; Lee, Kun Y.; Gutierrez, Stephanie; Yussuf, Amal; Hart, Steven N.; Davis, Brigette Tippin; Chao, Elizabeth C.; Pesaran, Tina; Goldgar, David E.; Dolinsky, Jill S.; Couch, Fergus J. 分享 收藏
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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort Li, Hongyan; LaDuca, Holly; Pesaran, Tina; Chao, Elizabeth C.; Dolinsky, Jill S.; Parsons, Michael; Spurdle, Amanda B.; Polley, Eric C.; Shimelis, Hermela; Hart, Steven N.; Hu, Chunling; Couch, Fergus J.; Goldgar, David E. 分享 收藏
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes Landrith, Tyler; Li, Bing; Cass, Ashley A.; Conner, Blair R.; LaDuca, Holly; McKenna, Danielle B.; Maxwell, Kara N.; Domchek, Susan; Morman, Nichole A.; Heinlen, Christopher; Wham, Deborah; Koptiuch, Cathryn; Vagher, Jennie; Rivera, Ragene; Bunnell, Ann; Patel, Gayle; Geurts, Jennifer L.; Depas, Morgan M.; Gaonkar, Shraddha; Pirzadeh-Miller, Sara; Krukenberg, Rebekah; Seidel, Meredith; Pilarski, Robert; Farmer, Meagan; Pyrtel, Khateriaa; Milliron, Kara; Lee, John; Hoodfar, Elizabeth; Nathan, Deepika; Ganzak, Amanda C.; Wu, Sitao; Vuong, Huy; Xu, Dong; Arulmoli, Aarani; Parra, Melissa; Hoang, Lily; Molparia, Bhuvan; Fennessy, Michele; Fox, Susanne; Charpentier, Sinead; Burdette, Julia; Pesaran, Tina; Profato, Jessica; Smith, Brandon; Haynes, Ginger; Dalton, Emily; Crandall, Joy Rae-Radecki; Baxter, Ruth; Lu, Hsiao-Mei; Tippin-Davis, Brigette; Elliott, Aaron; Chao, Elizabeth; Karam, Rachid 分享 收藏
Concurrent DNA and RNA genetic testing identifies more patients with hereditary breast cancer than DNA testing alone LaDuca, Holly; Hoang, Lily; Dolinsky, Jill; Profato, Jessica; Yussuf, Amal; Horton, Carolyn; Dresbold, Cara; Garcia, Cassie; Koptiuch, Catherine; Dondanville, Danielle; McKenna, Danielle; Menashe, Danielle; Wham, Deborah; Nathan, Deepika; Samad, Diane; Hoodfar, Elizabeth; Patel, Gayle; Moore, Jen; Geurts, Jennifer; Lee, John; Milliron, Kara; Pyrtel, Khateriaa; Farmer, Meagan; Seidel, Meredith; Depas, Morgan; Morman, Nichole; Tan, Olivia; Krukenberg, Rebekah; Pilarski, Rob; Stachowiak, Samantha; Jenkinson, Sandra; Pirzadeh-Miller, Sara; Gaonkar, Shraddha; Demarco, Tiffani; Davis, Brigette Tippin; Chao, Elizabeth C.; Karam, Rachid 分享 收藏
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients LaDuca, Holly; Polley, Eric C.; Yussuf, Amal; Hoang, Lily; Gutierrez, Stephanie; Hart, Steven N.; Yadav, Siddhartha; Hu, Chunling; Na, Jie; Goldgar, David E.; Fulk, Kelly; Smith, Laura Panos; Horton, Carolyn; Profato, Jessica; Pesaran, Tina; Gau, Chia-Ling; Pronold, Melissa; Davis, Brigette Tippin; Chao, Elizabeth C.; Couch, Fergus J.; Dolinsky, Jill S. 分享 收藏
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification Tian, Yuan; Pesaran, Tina; Chamberlin, Adam; Fenwick, R. Bryn; Li, Shuwei; Gau, Chia-Ling; Chao, Elizabeth C.; Lu, Hsiao-Mei; Black, Mary Helen; Qian, Dajun 分享 收藏
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity Li, Shuwei; Qian, Dajun; Thompson, Bryony A.; Gutierrez, Stephanie; Wu, Sitao; Pesaran, Tina; LaDuca, Holly; Lu, Hsiao-Mei; Chao, Elizabeth C.; Black, Mary Helen 分享 收藏
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