Not logged in Share Save
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 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 Share Save
Share Save
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants 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. Share Save
Share Save
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. Share Save
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. Share Save
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. Share Save
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 Share Save
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel 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 Share Save
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 Share Save
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 Share Save
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. Share Save
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases 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 Share Save
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. Share Save
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. Share Save
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 Share Save
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 Share Save
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. Share Save
Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}