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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit Utah NeoSeq项目：一个促进新生儿重症监护室基因组诊断的协作性多学科项目 Jenkins, Sabrina Malone; Palmquist, Rachel N.; Moore, Barry; Boyden, Steven E.; Nicholas, Thomas J.; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J. Andrew R.; Holt, Carson H.; Rynearson, Shawn G.; Solorzano, Chelsea M.; Ward, Alistair; Best, D. Hunter; Al-Sweel, Najla; Bentley, Dawn L.; Brunelli, Luca; Chow, Clement Y.; Close, Devin W.; Cormier, Michael J.; Deshotel, Malia J.; Durtschi, Jacob; Eide, Erik J.; Floyd, Luaiva; Fredrickson, Eric K.; Fulmer, Makenzie L.; Hernandez, Edgar J.; Kapron, Ashley L.; Karren, Mary Anne; Lewis, Robert G.; Miller, Christine E.; Murtaugh, L. Charles; Nicholson, Kelsey E.; Noble, Katherine; O'Fallon, Brendan D.; O'Shea, John M.; Pattison, David C.; Pedersen, Brent S.; Petersen, Brandy J.; Peterson, Bennet D.; Pizzo, Lucilla; Reynolds, Hayley M.; Rindler, Paul; Torr, Carrie B.; Wen, Ting; Yost, H. Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T.; Quinlan, Aaron R.; Carey, John C.; Shayota, Brian J.; Tristani-Firouzi, Martin; Bonkowsky, Joshua L. 分享 收藏
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection Kingsmore, Stephen F.; Wright, Meredith; Smith, Laurie D.; Liang, Yupu; Mowrey, William R.; Protopsaltis, Liana; Bainbridge, Matthew; Baker, Mei; Batalov, Sergey; Blincow, Eric; Cao, Bryant; Caylor, Sara; Chambers, Christina; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Kiel, Mark; van der Kraan, Lucita; Krilow, Chad; Kwon, Hugh; Madhavrao, Lakshminarasimha; Lefebvre, Sebastien; Leipzig, Jeremy; Mardach, Rebecca; Moore, Barry; Oh, Danny; Olsen, Lauren; Ontiveros, Eric; Owen, Mallory J.; Reimers, Rebecca; Scharer, Gunter; Schleit, Jennifer; Shelnutt, Seth; Mehtalia, Shyamal S.; Oriol, Albert; Sanford, Erica; Schwartz, Steve; Wigby, Kristen; Willis, Mary J.; Yandell, Mark; Kunard, Chris M.; Defay, Thomas 分享 收藏
χ-Conotoxins are an Evolutionary Innovation of Mollusk-Hunting Cone Snails as a Counter-Adaptation to Prey Defense Espino, Samuel; Watkins, Maren; Probst, Rodolfo; Koch, Thomas Lund; Chase, Kevin; Imperial, Julita; Robinson, Samuel D.; Florez Salcedo, Paula; Taylor, Dylan; Gajewiak, Joanna; Yandell, Mark; Safavi-Hemami, Helena; Olivera, Baldomero M. 分享 收藏
Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency Allen-Brady, Kristina; Moore, Barry; Verrilli, Lauren E.; Alvord, Margaret A.; Kern, Marina; Camp, Nicola; Kelley, Kristen; Letourneau, Joseph; Cannon-Albright, Lisa; Yandell, Mark; Johnstone, Erica B.; Welt, Corrine K. 分享 收藏
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young Puckelwartz, Megan J.; Pesce, Lorenzo L.; Hernandez, Edgar J.; Webster, Gregory; Dellefave-Castillo, Lisa M.; Russell, Mark W.; Geisler, Sarah S.; Kearns, Samuel D.; Karthik, Felix; Etheridge, Susan P.; Monroe, Tanner O.; Pottinger, Tess D.; Kannankeril, Prince J.; Shoemaker, M. Benjamin; Fountain, Darlene; Roden, Dan M.; Faulkner, Meghan; MacLeod, Heather M.; Burns, Kristin M.; Yandell, Mark; Tristani-Firouzi, Martin; George Jr, Alfred L.; McNally, Elizabeth M. 分享 收藏
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease 遗传和临床变量协同作用，影响单心室心脏病患儿的神经发育结果 Miller, Thomas A.; Hernandez, Edgar J.; Gaynor, J. William; Russell, Mark W.; Newburger, Jane W.; Chung, Wendy; Goldmuntz, Elizabeth; Cnota, James F.; Zyblewski, Sinai C.; Mahle, William T.; Zak, Victor; Ravishankar, Chitra; Kaltman, Jonathan R.; Mccrindle, Brian W.; Clarke, Shanelle; Votava-Smith, Jodie K.; Graham, Eric M.; Seed, Mike; Rudd, Nancy; Bernstein, Daniel; Lee, Teresa M.; Yandell, Mark; Tristani-Firouzi, Martin 分享 收藏
Identification of sodium channel toxins from marine cone snails of the subgenera Textilia and Afonsoconus Mcmahon, Kirsten L.; O'Brien, Henrik; Schroeder, Christina I.; Deuis, Jennifer R.; Venkatachalam, Dhananjeyan; Huang, Di; Green, Brad R.; Bandyopadhyay, Pradip K.; Li, Qing; Yandell, Mark; Safavi-Hemami, Helena; Olivera, Baldomero M.; Vetter, Irina; Robinson, Samuel D. 分享 收藏
Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder 小儿双相情感障碍中罕见的PLXNB1突变引起的神经突生长缺陷 Yang, Guang; Ullah, H. M. Arif; Parker, Ethan; Gorsi, Bushra; Libowitz, Mark; Maguire, Colin; King, Jace B.; Coon, Hilary; Lopez-Larson, Melissa; Anderson, Jeffrey S.; Yandell, Mark; Shcheglovitov, Alex 分享 收藏
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning Peterson, Bennet; Hernandez, Edgar Javier; Hobbs, Charlotte; Jenkins, Sabrina Malone; Moore, Barry; Rosales, Edwin; Zoucha, Samuel; Sanford, Erica; Bainbridge, Matthew N.; Frise, Erwin; Oriol, Albert; Brunelli, Luca; Kingsmore, Stephen F.; Yandell, Mark 分享 收藏
DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis Johnstone, Erica Boiman; Gorsi, Bushra; Coelho, Emily; Moore, Barry; Farr, Ashley M.; Cooper, Amber R.; Mardis, Elaine R.; Rajkovic, Aleksander; Chow, Clement Y.; Yandell, Mark; Welt, Corrine K. 分享 收藏
An improved germline genome assembly for the sea lamprey Petromyzon marinus illuminates the evolution of germline-specific chromosomes Timoshevskaya, Nataliya; Eskut, Kaan, I; Timoshevskiy, Vladimir A.; Robb, Sofia M. C.; Holt, Carson; Hess, Jon E.; Parker, Hugo J.; Baker, Cindy F.; Miller, Allison K.; Saraceno, Cody; Yandell, Mark; Krumlauf, Robb; Narum, Shawn R.; Lampman, Ralph T.; Gemmell, Neil J.; Mountcastle, Jacquelyn; Haase, Bettina; Balacco, Jennifer R.; Formenti, Giulio; Pelan, Sarah; Sims, Ying; Howe, Kerstin; Fedrigo, Olivier; Jarvis, Erich D.; Smith, Jeramiah J. 分享 收藏
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele Hateley, Shannon; Lopez-Izquierdo, Angelica; Jou, Chuanchau J.; Cho, Scott; Schraiber, Joshua G.; Song, Shiya; Maguire, Colin T.; Torres, Natalia; Riedel, Michael; Bowles, Neil E.; Arrington, Cammon B.; Kennedy, Brett J.; Etheridge, Susan P.; Lai, Shuping; Pribble, Chase; Meyers, Lindsay; Lundahl, Derek; Byrnes, Jake; Granka, Julie M.; Kauffman, Christopher A.; Lemmon, Gordon; Boyden, Steven; Watkins, W. Scott; Karren, Mary Anne; Knight, Stacey; Muhlestein, J. Brent; Carlquist, John F.; Anderson, Jeffrey L.; Chahine, Kenneth G.; Shah, Khushi U.; Ball, Catherine A.; Benjamin, Ivor J.; Yandell, Mark; Tristani-Firouzi, Martin 分享 收藏
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Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency Gorsi, Bushra; Hernandez, Edgar; Moore, Marvin Barry; Moriwaki, Mika; Chow, Clement Y.; Coelho, Emily; Taylor, Elaine; Lu, Claire; Walker, Amanda; Touraine, Philippe; Nelson, Lawrence M.; Cooper, Amber R.; Mardis, Elaine R.; Rajkovic, Aleksander; Yandell, Mark; Welt, Corrine K. 分享 收藏
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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases De la Vega, Francisco M.; Chowdhury, Shimul; Moore, Barry; Frise, Erwin; McCarthy, Jeanette; Hernandez, Edgar Javier; Wong, Terence; James, Kiely; Guidugli, Lucia; Agrawal, Pankaj B.; Genetti, Casie A.; Brownstein, Catherine A.; Beggs, Alan H.; Loescher, Britt-Sabina; Franke, Andre; Boone, Braden; Levy, Shawn E.; Ounap, Katrin; Pajusalu, Sander; Huentelman, Matt; Ramsey, Keri; Naymik, Marcus; Narayanan, Vinodh; Veeraraghavan, Narayanan; Billings, Paul; Reese, Martin G.; Yandell, Mark; Kingsmore, Stephen F. 分享 收藏
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene 非编码序列变异在N-乙酰谷氨酸合酶基因的第一个内含子中定义了一个新的调控元件 Haeberle, Johannes; Moore, Marvin B.; Haskins, Nantaporn; Rufenacht, Veronique; Rokicki, Dariusz; Rubio-Gozalbo, Estela; Tuchman, Mendel; Longo, Nicola; Yandell, Mark; Andrews, Ashley; AhMew, Nicholas; Caldovic, Ljubica 分享 收藏
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