Showing 1 - 15 results of 15 for search 'Richard A. Gibbs', query time: 0.04s
Refine Results
-
1
Truvari: refined structural variant comparison preserves allelic diversity by Adam C. English, Vipin K. Menon, Richard A. Gibbs, Ginger A. Metcalf, Fritz J. Sedlazeck
Published 2022-12-01
Article -
2
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders by Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir
Published 2024-04-01
Article -
3
Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients by Hyeyeun Lim, Marie-Claude Gingras, Jing Zhao, Jinyoung Byun, Patricia D. Castro, Spiridon Tsavachidis, Jianhong Hu, Harshavardhan Doddapaneni, Yi Han, Donna M. Muzny, Richard A. Gibbs, Christopher I. Amos, Aaron P. Thrift
Published 2024-04-01
Article -
4
Modeling nonsegmented negative-strand RNA virus (NNSV) transcription with ejective polymerase collisions and biased diffusion by Felipe-Andrés Piedra, David Henke, Anubama Rajan, Donna M. Muzny, Harsha Doddapaneni, Vipin K. Menon, Kristi L. Hoffman, Matthew C. Ross, Sara J. Javornik Cregeen, Ginger Metcalf, Richard A. Gibbs, Joseph F. Petrosino, Vasanthi Avadhanula, Pedro A. Piedra, Pedro A. Piedra
Published 2023-01-01
Article -
5
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy by Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H. T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban-Akdemir, Shaine A. Morris
Published 2024-04-01
Article -
6
Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. by Harsha Doddapaneni, Sara Javornik Cregeen, Richard Sucgang, Qingchang Meng, Xiang Qin, Vasanthi Avadhanula, Hsu Chao, Vipin Menon, Erin Nicholson, David Henke, Felipe-Andres Piedra, Anubama Rajan, Zeineen Momin, Kavya Kottapalli, Kristi L Hoffman, Fritz J Sedlazeck, Ginger Metcalf, Pedro A Piedra, Donna M Muzny, Joseph F Petrosino, Richard A Gibbs
Published 2021-01-01
Article -
7
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities by Eric Venner, Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi-Ju Chen, Sara E. Kalla, Bo Yuan, Jason H. Karnes, Kimberly Walker, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Andrew Haddad, Philip E. Empey, Qiaoyan Wang, Lee Lichtenstein, Diana Toledo, Gail Jarvik, Anjene Musick, Richard A. Gibbs, on behalf of the All of Us Research Program Investigators
Published 2024-02-01
Article -
8
The impact of the Turkish population variome on the genomic architecture of rare disease traits by Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski
Published 2024-01-01
Article -
9
An ELF4 hypomorphic variant results in NK cell deficiency by Sandra Andrea Salinas, Emily M. Mace, Matilde I. Conte, Chun Shik Park, Yu Li, Joshua I. Rosario-Sepulveda, Sanjana Mahapatra, Emily K. Moore, Evelyn R. Hernandez, Ivan K. Chinn, Abigail E. Reed, Barclay J. Lee, Alexander Frumovitz, Richard A. Gibbs, Jennifer E. Posey, Lisa R. Forbes Satter, Akaluck Thatayatikom, Eric J. Allenspach, Theodore G. Wensel, James R. Lupski, H. Daniel Lacorazza, Jordan S. Orange
Published 2022-12-01
Article -
10
Genetic sex validation for sample tracking in next-generation sequencing clinical testing by Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny
Published 2024-03-01
Article -
11
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome by Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
Published 2023-07-01
Article -
12
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. by Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Published 2023-11-01
Article -
13
Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. by James S Floyd, Katarzyna M Bloch, Jennifer A Brody, Cyrielle Maroteau, Moneeza K Siddiqui, Richard Gregory, Daniel F Carr, Mariam Molokhia, Xiaoming Liu, Joshua C Bis, Ammar Ahmed, Xuan Liu, Pär Hallberg, Qun-Ying Yue, Patrik K E Magnusson, Diane Brisson, Kerri L Wiggins, Alanna C Morrison, Etienne Khoury, Paul McKeigue, Bruno H Stricker, Maryse Lapeyre-Mestre, Susan R Heckbert, Arlene M Gallagher, Hector Chinoy, Richard A Gibbs, Emmanuelle Bondon-Guitton, Russell Tracy, Eric Boerwinkle, Daniel Gaudet, Anita Conforti, Tjeerd van Staa, Colleen M Sitlani, Kenneth M Rice, Anke-Hilse Maitland-van der Zee, Mia Wadelius, Andrew P Morris, Munir Pirmohamed, Colin A N Palmer, Bruce M Psaty, Ana Alfirevic, PREDICTION-ADR Consortium and EUDRAGENE
Published 2019-01-01
Article -
14
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma by Christopher J. Ricketts, Aguirre A. De Cubas, Huihui Fan, Christof C. Smith, Martin Lang, Ed Reznik, Reanne Bowlby, Ewan A. Gibb, Rehan Akbani, Rameen Beroukhim, Donald P. Bottaro, Toni K. Choueiri, Richard A. Gibbs, Andrew K. Godwin, Scott Haake, A. Ari Hakimi, Elizabeth P. Henske, James J. Hsieh, Thai H. Ho, Rupa S. Kanchi, Bhavani Krishnan, David J. Kwiatkowski, Wenbin Liu, Maria J. Merino, Gordon B. Mills, Jerome Myers, Michael L. Nickerson, Victor E. Reuter, Laura S. Schmidt, C. Simon Shelley, Hui Shen, Brian Shuch, Sabina Signoretti, Ramaprasad Srinivasan, Pheroze Tamboli, George Thomas, Benjamin G. Vincent, Cathy D. Vocke, David A. Wheeler, Lixing Yang, William Y. Kim, A. Gordon Robertson, Paul T. Spellman, W. Kimryn Rathmell, W. Marston Linehan
Published 2024-04-01
Article -
15
Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles by Farshad Farshidfar, Siyuan Zheng, Marie-Claude Gingras, Yulia Newton, Juliann Shih, A. Gordon Robertson, Toshinori Hinoue, Katherine A. Hoadley, Ewan A. Gibb, Jason Roszik, Kyle R. Covington, Chia-Chin Wu, Eve Shinbrot, Nicolas Stransky, Apurva Hegde, Ju Dong Yang, Ed Reznik, Sara Sadeghi, Chandra Sekhar Pedamallu, Akinyemi I. Ojesina, Julian M. Hess, J. Todd Auman, Suhn K. Rhie, Reanne Bowlby, Mitesh J. Borad, Rehan Akbani, Loretta K. Allotey, Adrian Ally, Domenico Alvaro, Jesper B. Andersen, Elizabeth L. Appelbaum, Arshi Arora, J. Todd Auman, Miruna Balasundaram, Saianand Balu, Nabeel Bardeesy, Oliver F. Bathe, Stephen B. Baylin, Rameen Beroukhim, Mario Berrios, Tom Bodenheimer, Lori Boice, Moiz S. Bootwalla, Mitesh J. Borad, Jay Bowen, Reanne Bowlby, Maria Consiglia Bragazzi, Denise Brooks, Vincenzo Cardinale, Rebecca Carlsen, Guido Carpino, Andre L. Carvalho, Roongruedee Chaiteerakij, Vishal C. Chandan, Andrew D. Cherniack, Lynda Chin, Juok Cho, Gina Choe, Eric Chuah, Sudha Chudamani, Carrie Cibulskis, Matthew G. Cordes, Kyle R. Covington, Daniel Crain, Erin Curley, Agostino Maria De Rose, Timothy Defreitas, John A. Demchok, Vikram Deshpande, Noreen Dhalla, Li Ding, Kimberley Evason, Farshad Farshidfar, Ina Felau, Martin L. Ferguson, Wai Chin Foo, Antonio Franchitto, Scott Frazer, Catrina C. Fronick, Lucinda A. Fulton, Robert S. Fulton, Stacey B. Gabriel, Johanna Gardner, Julie M. Gastier-Foster, Eugenio Gaudio, Nils Gehlenborg, Giannicola Genovese, Mark Gerken, Gad Getz, Nasra H. Giama, Richard A. Gibbs, Marie-Claude Gingras, Felice Giuliante, Gian Luca Grazi, D. Neil Hayes, Apurva M. Hegde, David I. Heiman, Julian M. Hess, Toshinori Hinoue, Katherine A. Hoadley, Andrea Holbrook, Robert A. Holt, Alan P. Hoyle, Mei Huang, Carolyn M. Hutter, Stuart R. Jefferys, Steven J.M. Jones, Corbin D. Jones, Katayoon Kasaian, Robin K. Kelley, Jaegil Kim, David E. Kleiner, Jean-Pierre A. Kocher, Lawrence N. Kwong, Phillip H. Lai, Peter W. Laird, Michael S. Lawrence, Kristen M. Leraas, Tara M. Lichtenberg, Pei Lin, Wenbin Liu, Jia Liu, Laxmi Lolla, Yiling Lu, Yussanne Ma, David Mallery, Elaine R. Mardis, Marco A. Marra, Marcus M. Matsushita, Michael Mayo, Michael D. McLellan, Autumn J. McRee, Sam Meier, Shaowu Meng, Matthew Meyerson, Piotr A. Mieczkowski, Christopher A. Miller, Gordon B. Mills, Richard A. Moore, Scott Morris, Lisle E. Mose, Catherine D. Moser, Taofic Mounajjed, Andrew J. Mungall, Karen Mungall, Bradley A. Murray, Rashi Naresh, Yulia Newton, Michael S. Noble, Daniel R. O’Brien, Akinyemi I. Ojesina, Joel S. Parker, Tushar C. Patel, Joseph Paulauskis, Chandra Sekhar Pedamallu, Robert Penny, Charles M. Perou, Amy H. Perou, Todd Pihl, Amie J. Radenbaugh, Nilsa C. Ramirez, W. Kimryn Rathmell, Ed Reznik, Suhn K. Rhie, Jeffrey Roach, Lewis R. Roberts, A. Gordon Robertson, Sara Sadeghi, Gordon Saksena, Chris Sander, Jacqueline E. Schein, Heather K. Schmidt, Steven E. Schumacher, Candace Shelton, Troy Shelton, Ronglai Shen, Margi Sheth, Yan Shi, Juliann Shih, Eve Shinbrot, Rachna Shroff, Janae V. Simons, Payal Sipahimalani, Tara Skelly, Heidi J. Sofia, Matthew G. Soloway, Hubert Stoppler, Nicolas Stransky, Josh Stuart, Qiang Sun, Angela Tam, Donghui Tan, Roy Tarnuzzer, Nina Thiessen, Leigh B. Thorne, Michael S. Torbenson, David J. Van Den Berg, Umadevi Veluvolu, Roel G.W. Verhaak, Doug Voet, Yunhu Wan, Zhining Wang, John N. Weinstein, Daniel J. Weisenberger, David A. Wheeler, Richard K. Wilson, Lisa Wise, Tina Wong, Chia-Chin Wu, Ye Wu, Liu Xi, Ju Dong Yang, Liming Yang, Jean C. Zenklusen, Hailei Zhang, Jiashan (Julia) Zhang, Siyuan Zheng, Erik Zmuda
Published 2017-06-01
Article