Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

by Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs
Published 2020-10-01

HD-PTP is a catalytically inactive tyrosine phosphatase due to a conserved divergence in its phosphatase domain.

by Marie-Claude Gingras, Yu Ling Zhang, Dmitri Kharitidi, Alastair J Barr, Stefan Knapp, Michel L Tremblay, Arnim Pause
Published 2009-01-01

Interplay of Endosomal pH and Ligand Occupancy in Integrin α5β1 Ubiquitination, Endocytic Sorting, and Cell Migration

by Dmitri Kharitidi, Pirjo M. Apaja, Sanaz Manteghi, Kei Suzuki, Elena Malitskaya, Ariel Roldan, Marie-Claude Gingras, Junichi Takagi, Gergely L. Lukacs, Arnim Pause
Published 2015-10-01

Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer

by Sanaz Manteghi, Marie-Claude Gingras, Dmitri Kharitidi, Luc Galarneau, Maud Marques, Ming Yan, Regina Cencic, Francis Robert, Marilène Paquet, Michael Witcher, Jerry Pelletier, Arnim Pause
Published 2016-05-01

FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores.

by Elite Possik, Andrew Ajisebutu, Sanaz Manteghi, Marie-Claude Gingras, Tarika Vijayaraghavan, Mathieu Flamand, Barry Coull, Kathrin Schmeisser, Thomas Duchaine, Maurice van Steensel, David H Hall, Arnim Pause
Published 2015-10-01

Folliculin regulates ampk-dependent autophagy and metabolic stress survival.

by Elite Possik, Zahra Jalali, Yann Nouët, Ming Yan, Marie-Claude Gingras, Kathrin Schmeisser, Lorena Panaite, Fanny Dupuy, Dmitri Kharitidi, Laëtitia Chotard, Russell G Jones, David H Hall, Arnim Pause
Published 2014-04-01

Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections

by Timothy Farinholt, Harsha Doddapaneni, Xiang Qin, Vipin Menon, Qingchang Meng, Ginger Metcalf, Hsu Chao, Marie-Claude Gingras, Vasanthi Avadhanula, Paige Farinholt, Charu Agrawal, Donna M. Muzny, Pedro A. Piedra, Richard A. Gibbs, Joseph Petrosino
Published 2021-10-01

PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform.

by Shi-He Liu, Donald D Rao, John Nemunaitis, Neil Senzer, Guisheng Zhou, David Dawson, Marie-Claude Gingras, Zhaohui Wang, Richard Gibbs, Michael Norman, Nancy S Templeton, Francesco J Demayo, Bert O'Malley, Robbi Sanchez, William E Fisher, F Charles Brunicardi
Published 2012-01-01

Functional annotation of rare gene aberration drivers of pancreatic cancer

by Yiu Huen Tsang, Turgut Dogruluk, Philip M. Tedeschi, Joanna Wardwell-Ozgo, Hengyu Lu, Maribel Espitia, Nikitha Nair, Rosalba Minelli, Zechen Chong, Fengju Chen, Qing Edward Chang, Jennifer B. Dennison, Armel Dogruluk, Min Li, Haoqiang Ying, Joseph R. Bertino, Marie-Claude Gingras, Michael Ittmann, John Kerrigan, Ken Chen, Chad J. Creighton, Karina Eterovic, Gordon B. Mills, Kenneth L. Scott
Published 2016-01-01

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

by Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs
Published 2021-01-01

DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

by Vanessa Lakis, Rita T. Lawlor, Felicity Newell, Ann-Marie Patch, Andrea Mafficini, Anguraj Sadanandam, Lambros T. Koufariotis, Rebecca L. Johnston, Conrad Leonard, Scott Wood, Borislav Rusev, Vincenzo Corbo, Claudio Luchini, Sara Cingarlini, Luca Landoni, Roberto Salvia, Michele Milella, David Chang, Peter Bailey, Nigel B. Jamieson, Fraser Duthie, Marie-Claude Gingras, Donna M. Muzny, David A. Wheeler, Richard A. Gibbs, Massimo Milione, APGI, ARC-Net, Paolo Pederzoli, Jaswinder S. Samra, Anthony J. Gill, Amber L. Johns, John V. Pearson, Andrew V. Biankin, Sean M. Grimmond, Nicola Waddell, Katia Nones, Aldo Scarpa
Published 2021-02-01

Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation

by Marie-Claude Gingras, Kyle R. Covington, David K. Chang, Lawrence A. Donehower, Anthony J. Gill, Michael M. Ittmann, Chad J. Creighton, Amber L. Johns, Eve Shinbrot, Ninad Dewal, William E. Fisher, Christian Pilarsky, Robert Grützmann, Michael J. Overman, Nigel B. Jamieson, George Van Buren II, Jennifer Drummond, Kimberly Walker, Oliver A. Hampton, Liu Xi, Donna M. Muzny, Harsha Doddapaneni, Sandra L. Lee, Michelle Bellair, Jianhong Hu, Yi Han, Huyen H. Dinh, Mike Dahdouli, Jaswinder S. Samra, Peter Bailey, Nicola Waddell, John V. Pearson, Ivon Harliwong, Huamin Wang, Daniela Aust, Karin A. Oien, Ralph H. Hruban, Sally E. Hodges, Amy McElhany, Charupong Saengboonmee, Fraser R. Duthie, Sean M. Grimmond, Andrew V. Biankin, David A. Wheeler, Richard A. Gibbs
Published 2016-02-01

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, Andrew X. Zhu, Josh M. Stuart, Chris Sander, Rehan Akbani, Andrew D. Cherniack, Vikram Deshpande, Taofic Mounajjed, Wai Chin Foo, Michael S. Torbenson, David E. Kleiner, Peter W. Laird, David A. Wheeler, Autumn J. McRee, Oliver F. Bathe, Jesper B. Andersen, Nabeel Bardeesy, Lewis R. Roberts, Lawrence N. Kwong
Published 2017-03-01

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