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A Comprehensive Whole Genome Sequencing Assay Provides Robust Characterization of Clinically Relevant Genomic Alterations across Myeloid Malignancies Concordant with Matched Results from Targeted DNA, Whole Transcriptome RNA and Cytogenetic Profiling 一项全面的基因组测序分析为临床相关的髓系恶性肿瘤基因组改变提供了稳健的表征，其结果与靶向DNA、全转录组RNA和细胞遗传学分析匹配的结果一致。 Huether, Robert; Hoskinson, Derick; Anur, Pavana; Torres, Raul; Beutner, Karl R.; Yang, Yan; Kaneva, Kristiyana; Potts, Kelly A.; Frazier, Andrew; Braunstein, Iris; Mahon, Brett; Thompson, Michael A.; Sasser, Kate; Nimeiri, Halla; Kraft, Lewis J.; de la Vega, Francisco; Dinner, Shira N.; Garcia-Manero, Guillermo 分享 收藏
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants 种系TP53变体的ACMG/AMP变体解释指南的规范 Fortuno, Cristina; Lee, Kristy; Olivier, Magali; Pesaran, Tina; Mai, Phuong L.; de Andrade, Kelvin C.; Attardi, Laura D.; Crowley, Stephanie; Evans, D. Gareth; Feng, Bing-Jian; Foreman, Ann K. M.; Frone, Megan N.; Huether, Robert; James, Paul A.; McGoldrick, Kelly; Mester, Jessica; Seifert, Bryce A.; Slavin, Thomas P.; Witkowski, Leora; Zhang, Liying; Plon, Sharon E.; Spurdle, Amanda B.; Savage, Sharon A. 分享 收藏
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Universal genetic and transcriptomic concordance metrics to validate patient-derived tumor organoid models Mapes, Brandon L.; Bell, Joshua S. K.; Langer, Lee F.; Huether, Robert; Igartua, Catherine; Sanchez-Freire, Veronica; Tell, Robert; Borgia, Jeffrey A.; Masood, Ashiq; Salahudeen, Ameen A. 分享 收藏
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O.; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G.; Caruso, Paul A.; Lin, Angela E.; Jansen, Floor E.; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H.; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E.; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C.; Kruer, Michael C. 分享 收藏
Integrated genomic profiling expands clinical options for patients with cancer Beaubier, Nike; Bontrager, Martin; Huether, Robert; Igartua, Catherine; Lau, Denise; Tell, Robert; Bobe, Alexandria M.; Bush, Stephen; Chang, Alan L.; Hoskinson, Derick C.; Khan, Aly A.; Kudalkar, Emily; Leibowitz, Benjamin D.; Lozachmeur, Ariane; Michuda, Jackson; Parsons, Jerod; Perera, Jason F.; Salahudeen, Ameen; Shah, Kaanan P.; Taxter, Timothy; Zhu, Wei; White, Kevin P. 分享 收藏
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein Chamberlin, Adam; Huether, Robert; Machado, Aline Z.; Groden, Michael; Liu, Hsiao-Mei; Upadhyay, Kinnari; Vivian, O.; Gomes, Nathalia L.; Lerario, Antonio M.; Nishi, Mirian Y.; Costa, Elaine M. F.; Mendonca, Berenice; Domenice, Sorahia; Velasco, Jacqueline; Loke, Johnny; Ostrer, Harry 分享 收藏
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel PTEN变体治疗的基因特异性标准: ClinGen PTEN专家小组的建议 Mester, Jessica L.; Ghosh, Rajarshi; Pesaran, Tina; Huether, Robert; Karam, Rachid; Hruska, Kathleen S.; Costa, Helio A.; Lachlan, Katherine; Ngeow, Joanne; Barnholtz-Sloan, Jill; Sesock, Kaitlin; Hernandez, Felicia; Zhang, Liying; Milko, Laura; Plon, Sharon E.; Hegde, Madhuri; Eng, Charis 分享 收藏
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases (vol 19, pg 224, 2017) Hagman, Kelly D. Farwell; Shinde, Deepali N.; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zoe; Chao, Elizabeth C.; Alcaraz, Wendy A.; Helbig, Katherine L.; Sajan, Samin A.; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nunes, Mark E.; Tang, Sha 分享 收藏
DNM1 encephalopathy A new disease of vesicle fission von Spiczak, Sarah; Helbig, Katherine L.; Shinde, Deepali N.; Huether, Robert; Pendziwiat, Manuela; Lourenco, Charles; Nunes, Mark E.; Sarco, Dean P.; Kaplan, Richard A.; Dlugos, Dennis J.; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R.; Cervenka, Mackenzie C.; Cohen, Julie S.; McClellan, Rebecca; Fatemi, Ali; Yuen, Amy; Sagawa, Yoshimi; Littlejohn, Rebecca; McLean, Scott D.; Hernandez-Hernandez, Laura; Maher, Bridget; Moller, Rikke S.; Palmer, Elizabeth; Lawson, John A.; Campbell, Colleen A.; Joshi, Charuta N.; Kolbe, Diana L.; Hollingsworth, Georgie; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Scheffer, Ingrid E.; Pena, Sergio D. J.; Sisodiya, Sanjay M.; Helbig, Ingo 分享 收藏
Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients Couch, F. J.; Hu, C.; Lilyquist, J.; Shimelis, H.; Akinhanmi, M.; Na, J.; Polley, E. C.; Hart, S. N.; McFarland, R.; LaDuca, H.; Huether, R.; Goldgar, D. E.; Dolinsky, J. S. 分享 收藏
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases 临床报告的候选基因标准: 诊断性外显子组测序在8% 例未确诊疾病患者中鉴定改变的候选基因 Hagman, Kelly D. Farwell; Shinde, Deepali N.; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zoe; Chao, Elizabeth C.; Alcaraz, Wendy A.; Helbig, Katherine L.; Sajan, Samin A.; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nunes, Mark E.; Tang, Sha 分享 收藏
The genomic landscape of core-binding factor acute myeloid leukemias Faber, Zachary J.; Chen, Xiang; Gedman, Amanda Larson; Boggs, Kristy; Cheng, Jinjun; Ma, Jing; Radtke, Ina; Chao, Jyh-Rong; Walsh, Michael P.; Song, Guangchun; Andersson, Anna K.; Dang, Jinjun; Dong, Li; Liu, Yu; Huether, Robert; Call, Zhongling; Mulder, Heather; Wu, Gang; Edmonson, Michael; Rusch, Michael; Qu, Chunxu; Li, Yongjin; Vadodaria, Bhavin; Wang, Jianmin; Hedlund, Erin; Cao, Xueyuan; Yergeau, Donald; Nakitandwe, Joy; Pounds, Stanley B.; Shurtleff, Sheila; Fulton, Robert S.; Fulton, Lucinda L.; Easton, John; Parganas, Evan; Pui, Ching-Hon; Rubnitz, Jeffrey E.; Dingo, Li; Mardis, Elaine R.; Wilson, Richard K.; Gruber, Tanja A.; Mullighan, Charles G.; Schlenk, Richard F.; Paschka, Peter; Doehner, Konstanze; Doehner, Hartmut; Bullinger, Lars; Zhang, Jinghui; Klco, Jeffery M.; Downing, James R. 分享 收藏
A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia Helbig, Katherine L.; Hedrich, Ulrike B. S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne-Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao-Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpaa, Leena; Karle, Kathrin N.; Synofzik, Matthis; Schols, Ludger; Schule, Rebecca; Lehesjoki, Anna-Elina; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R. 分享 收藏
Breast and ovarian cancer risks associated with cancer predisposition gene mutations identified by multigene panel testing Couch, Fergus J.; Goldgar, David E.; Hart, Steven N.; Hallberg, Emily; Moore, Raymond; Meeks, Huong; Huether, Robert; LaDuca, Holly; Chao, Elizabeth; Dolinsky, Jill 分享 收藏
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M.; Labalme, Audrey; Salmi, Manal; Bache, Iben; Bruneau, Nadine; Pendziwiat, Manuela; Fluss, Joel; de Bellescize, Julitta; Scholly, Julia; Moller, Rikke S.; Craiu, Dana; Tommerup, Niels; Valenti-Hirsch, Maria Paola; Schluth-Bolard, Caroline; Sloan-Bena, Frederique; Helbig, Katherine L.; Weckhuysen, Sarah; Edery, Patrick; Coulbaut, Safia; Abbas, Mohamed; Scheffer, Ingrid E.; Tang, Sha; Myers, Candace T.; Stamberger, Hannah; Carvill, Gemma L.; Shinde, Deepali N.; Mefford, Heather C.; Neagu, Elena; Huether, Robert; Lu, Hsiao-Mei; Dica, Alice; Cohen, Julie S.; Iliescu, Catrinel; Pomeran, Cristina; Rubenstein, James; Helbig, Ingo; Sanlaville, Damien; Hirsch, Edouard; Szepetowski, Pierre 分享 收藏
The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias Andersson, Anna K.; Ma, Jing; Wang, Jianmin; Chen, Xiang; Gedman, Amanda Larson; Dang, Jinjun; Nakitandwe, Joy; Holmfeldt, Linda; Parker, Matthew; Easton, John; Huether, Robert; Kriwacki, Richard; Rusch, Michael; Wu, Gang; Li, Yongjin; Mulder, Heather; Raimondi, Susana; Pounds, Stanley; Kang, Guolian; Shi, Lei; Becksfort, Jared; Gupta, Pankaj; Payne-Turner, Debbie; Vadodaria, Bhavin; Boggs, Kristy; Yergeau, Donald; Manne, Jayanthi; Song, Guangchun; Edmonson, Michael; Nagahawatte, Panduka; Wei, Lei; Cheng, Cheng; Pei, Deqing; Sutton, Rosemary; Venn, Nicola C.; Chetcuti, Albert; Rush, Amanda; Catchpoole, Daniel; Heldrup, Jesper; Fioretos, Thoas; Lu, Charles; Ding, Li; Pui, Ching-Hon; Shurtleff, Sheila; Mullighan, Charles G.; Mardis, Elaine R.; Wilson, Richard K.; Gruber, Tanja A.; Zhang, Jinghui; Downing, James R. 分享 收藏
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