Not logged in The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit 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. Share Save
Share Save
Clonal dynamics of aggressive systemic mastocytosis on avapritinib therapy Huang, Xiaomeng; Pomicter, Anthony D.; Ahmann, Jonathan; Qiao, Yi; Chen, Opal S.; George, Tracy I.; Cruz-Rodriguez, Nataly; Guru, Sameer Ahmad; Marth, Gabor T.; Deininger, Michael W. Share Save
Share Save
Share Save
A Bayesian framework to study tumor subclone-specific expression by combining bulk DNA and single-cell RNA sequencing data Qiao, Yi; Huang, Xiaomeng; Moos, Philip J.; Ahmann, Jonathan M.; Pomicter, Anthony D.; Deininger, Michael W.; Byrd, John C.; Woyach, Jennifer A.; Stephens, Deborah M.; Marth, Gabor T. Share Save
Share Save
Archetype tasks link intratumoral heterogeneity to plasticity and cancer hallmarks in small cell lung cancer Groves, Sarah M.; Ildefonso, Geena, V; McAtee, Caitlin O.; Ozawa, Patricia M. M.; Ireland, Abbie S.; Stauffer, Philip E.; Wasdin, Perry T.; Huang, Xiaomeng; Qiao, Yi; Lim, Jing Shan; Bader, Jackie; Liu, Qi; Simmons, Alan J.; Lau, Ken S.; Iams, Wade T.; Hardin, Doug P.; Saff, Edward B.; Holmes, William R.; Tyson, Darren R.; Lovly, Christine M.; Rathmell, Jeffrey C.; Marth, Gabor; Sage, Julien; Oliver, Trudy G.; Weaver, Alissa M.; Quaranta, Vito Share Save
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization (vol 11, 20307, 2021) Di Sera, Tonya; Velinder, Matt; Ward, Alistair; Qiao, Yi; Georges, Stephanie; Miller, Chase; Pitman, Anders; Richards, Will; Ekawade, Aditya; Viskochil, David; Carey, John C.; Pace, Laura; Bale, Jim; Clardy, Stacey L.; Andrews, Ashley; Botto, Lorenzo; Marth, Gabor Share Save
Share Save
A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology Guillen, Katrin P.; Fujita, Maihi; Butterfield, Andrew J.; Scherer, Sandra D.; Bailey, Matthew H.; Chu, Zhengtao; DeRose, Yoko S.; Zhao, Ling; Cortes-Sanchez, Emilio; Yang, Chieh-Hsiang; Toner, Jennifer; Wang, Guoying; Qiao, Yi; Huang, Xiaomeng; Greenland, Jeffery A.; Vahrenkamp, Jeffery M.; Lum, David H.; Factor, Rachel E.; Nelson, Edward W.; Matsen, Cindy B.; Poretta, Jane M.; Rosenthal, Regina; Beck, Anna C.; Buys, Saundra S.; Vaklavas, Christos; Ward, John H.; Jensen, Randy L.; Jones, Kevin B.; Li, Zheqi; Oesterreich, Steffi; Dobrolecki, Lacey E.; Pathi, Satya S.; Woo, Xing Yi; Berrett, Kristofer C.; Wadsworth, Mark E.; Chuang, Jeffrey H.; Lewis, Michael T.; Marth, Gabor T.; Gertz, Jason; Varley, Katherine E.; Welm, Bryan E.; Welm, Alana L. Share Save
Share Save
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization Di Sera, Tonya; Velinder, Matt; Ward, Alistair; Qiao, Yi; Georges, Stephanie; Miller, Chase; Pitman, Anders; Richards, Will; Ekawade, Aditya; Viskochil, David; Carey, John C.; Pace, Laura; Bale, Jim; Clardy, Stacey L.; Andrews, Ashley; Botto, Lorenzo; Marth, Gabor Share Save
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. Share Save
Share Save
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias Bogenschutz, Eric L.; Fox, Zac D.; Farrell, Andrew; Wynn, Julia; Moore, Barry; Yu, Lan; Aspelund, Gudrun; Marth, Gabor; Yandell, Mark; Shen, Yufeng; Chung, Wendy K.; Kardon, Gabrielle Share Save
Genomic analyses implicate noncoding de novo variants in congenital heart disease Richter, Felix; Morton, Sarah U.; Kim, Seong Won; Kitaygorodsky, Alexander; Wasson, Lauren K.; Chen, Kathleen M.; Zhou, Jian; Qi, Hongjian J.; Patel, Nihir; DePalma, Steven R.; Parfenov, Michael; Homsy, Jason; Gorham, Joshua M.; Manheimer, Kathryn B.; Velinder, Matthew; Farrell, Andrew; Marth, Gabor; Schadt, Eric E.; Kaltman, Jonathan R.; Newburger, Jane W.; Giardini, Alessandro; Goldmuntz, Elizabeth; Brueckner, Martina; Kim, Richard; Porter, George A., Jr.; Bernstein, Daniel; Chung, Wendy K.; Srivastava, Deepak; Tristani-Firouzi, Martin; Troyanskaya, Olga G.; Dickel, Diane E.; Shen, Yufeng; Seidman, Jonathan G.; Seidman, Christine E.; Gelb, Bruce D. Share Save
SUICIDE DEATHS SELECTED FOR GENETIC RISK: POLYGENIC RISK SCORE CHARACTERISTICS AND HIGH-IMPACT SEQUENCE VARIANTS Coon, Hilary; Shabalin, Andrey; DiBlasi, Emily; Keeshin, Brooks; Bakian, Amanda; Ferris, Elliott; Callor, William B.; Velinder, Matt; Pedersen, Brent; Christensen, Erik; Quinlan, Aaron; Marth, Gabor; Li, Qingqin; Gray, Douglas; Docherty, Anna Share Save
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? Wooderchak-Donahue, Whitney L.; Akay, Gulsen; Whitehead, Kevin; Briggs, Eric; Stevenson, David A.; O'Fallon, Brendan; Velinder, Matthew; Farrell, Andrew; Shen, Wei; Bedoukian, Emma; Skrabann, Cara M.; Antaya, Richard J.; Henderson, Kate; Pollak, Jeffrey; Treat, James; Day, Ronald; Jacher, Joseph E.; Hannibal, Mark; Bontempo, Kelly; Marth, Gabor; Bayrak-Toydemir, Pinar; McDonald, Jamie Share Save