Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections
Farinholt, Timothy, Doddapaneni, Harsha, Qin, Xiang, Menon, Vipin, Meng, Qingchang, Metcalf, Ginger, Chao, Hsu, Gingras, Marie-Claude, Avadhanula, Vasanthi, Farinholt, Paige, Agrawal, Charu, Muzny, Donna M, Piedra, Pedro A, Gibbs, Richard A, Petrosino, Joseph
Published in BMC medicine (01.10.2021)
Published in BMC medicine (01.10.2021)
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Journal Article
Whole-genome sequencing for optimized patient management
Bainbridge, Matthew N, Wiszniewski, Wojciech, Murdock, David R, Friedman, Jennifer, Gonzaga-Jauregui, Claudia, Newsham, Irene, Reid, Jeffrey G, Fink, John K, Morgan, Margaret B, Gingras, Marie-Claude, Muzny, Donna M, Hoang, Linh D, Yousaf, Shahed, Lupski, James R, Gibbs, Richard A
Published in Science translational medicine (15.06.2011)
Published in Science translational medicine (15.06.2011)
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Journal Article
FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores
Possik, Elite, Ajisebutu, Andrew, Manteghi, Sanaz, Gingras, Marie-Claude, Vijayaraghavan, Tarika, Flamand, Mathieu, Coull, Barry, Schmeisser, Kathrin, Duchaine, Thomas, van Steensel, Maurice, Hall, David H, Pause, Arnim
Published in PLoS genetics (01.10.2015)
Published in PLoS genetics (01.10.2015)
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Journal Article
Folliculin regulates ampk-dependent autophagy and metabolic stress survival
Possik, Elite, Jalali, Zahra, Nouët, Yann, Yan, Ming, Gingras, Marie-Claude, Schmeisser, Kathrin, Panaite, Lorena, Dupuy, Fanny, Kharitidi, Dmitri, Chotard, Laëtitia, Jones, Russell G, Hall, David H, Pause, Arnim
Published in PLoS genetics (01.04.2014)
Published in PLoS genetics (01.04.2014)
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Journal Article
Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients
Lim, Hyeyeun, Gingras, Marie-Claude, Zhao, Jing, Byun, Jinyoung, Castro, Patricia D, Tsavachidis, Spiridon, Hu, Jianhong, Doddapaneni, Harshavardhan, Han, Yi, Muzny, Donna M, Gibbs, Richard A, Amos, Christopher I, Thrift, Aaron P
Published in Scientific reports (18.04.2024)
Published in Scientific reports (18.04.2024)
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Journal Article
The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation
Yan, Ming, Gingras, Marie-Claude, Dunlop, Elaine A, Nouët, Yann, Dupuy, Fanny, Jalali, Zahra, Possik, Elite, Coull, Barry J, Kharitidi, Dmitri, Dydensborg, Anders Bondo, Faubert, Brandon, Kamps, Miriam, Sabourin, Sylvie, Preston, Rachael S, Davies, David Mark, Roughead, Taren, Chotard, Laëtitia, van Steensel, Maurice A M, Jones, Russell, Tee, Andrew R, Pause, Arnim
Published in The Journal of clinical investigation (01.06.2014)
Published in The Journal of clinical investigation (01.06.2014)
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Journal Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases
Montenegro‐Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N., Madan‐Khetarpal, Suneeta, Scott, Daryl A., Abarca‐Barriga, Hugo, Trubnykova, Milana, Gingras, Marie‐Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard A.
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Journal Article
Functional annotation of rare gene aberration drivers of pancreatic cancer
Tsang, Yiu Huen, Dogruluk, Turgut, Tedeschi, Philip M, Wardwell-Ozgo, Joanna, Lu, Hengyu, Espitia, Maribel, Nair, Nikitha, Minelli, Rosalba, Chong, Zechen, Chen, Fengju, Chang, Qing Edward, Dennison, Jennifer B, Dogruluk, Armel, Li, Min, Ying, Haoqiang, Bertino, Joseph R, Gingras, Marie-Claude, Ittmann, Michael, Kerrigan, John, Chen, Ken, Creighton, Chad J, Eterovic, Karina, Mills, Gordon B, Scott, Kenneth L
Published in Nature communications (25.01.2016)
Published in Nature communications (25.01.2016)
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Journal Article
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
Murdock, David R, Venner, Eric, Muzny, Donna M, Metcalf, Ginger A, Murugan, Mullai, Hadley, Trevor D, Chander, Varuna, de Vries, Paul S, Jia, Xiaoming, Hussain, Aliza, Agha, Ali M, Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Hu, Jianhong, Tian, Xia, Cohen, Michelle, Yi, Victoria, Kovar, Christie L, Gingras, Marie-Claude, Korchina, Viktoriya, Howard, Chad, Riconda, Daniel L, Pereira, Stacey, Smith, Hadley S, Huda, Zohra A, Buentello, Alexandria, Marino, Patricia R, Leiber, Lee, Balasubramanyam, Ashok, Amos, Christopher I, Civitello, Andrew B, Chelu, Mihail G, Maag, Ronald, McGuire, Amy L, Boerwinkle, Eric, Wehrens, Xander H T, Ballantyne, Christie M, Gibbs, Richard A
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
Interplay of Endosomal pH and Ligand Occupancy in Integrin α5β1 Ubiquitination, Endocytic Sorting, and Cell Migration
Kharitidi, Dmitri, Apaja, Pirjo M., Manteghi, Sanaz, Suzuki, Kei, Malitskaya, Elena, Roldan, Ariel, Gingras, Marie-Claude, Takagi, Junichi, Lukacs, Gergely L., Pause, Arnim
Published in Cell reports (Cambridge) (20.10.2015)
Published in Cell reports (Cambridge) (20.10.2015)
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Journal Article
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer
Manteghi, Sanaz, Gingras, Marie-Claude, Kharitidi, Dmitri, Galarneau, Luc, Marques, Maud, Yan, Ming, Cencic, Regina, Robert, Francis, Paquet, Marilène, Witcher, Michael, Pelletier, Jerry, Pause, Arnim
Published in Cell reports (Cambridge) (31.05.2016)
Published in Cell reports (Cambridge) (31.05.2016)
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Journal Article
Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability
Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
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Journal Article
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Hansen, Adam W., Arora, Payal, Khayat, Michael M., Smith, Leah J., Lewis, Andrea M., Rossetti, Linda Z., Jayaseelan, Joy, Cristian, Ingrid, Haynes, Devon, DiTroia, Stephanie, Meeks, Naomi, Delgado, Mauricio R., Rosenfeld, Jill A., Pais, Lynn, White, Susan M., Meng, Qingchang, Pehlivan, Davut, Liu, Pengfei, Gingras, Marie-Claude, Wangler, Michael F., Muzny, Donna M., Lupski, James R., Kaplan, Craig D., Gibbs, Richard A.
Published in HGG advances (14.01.2021)
Published in HGG advances (14.01.2021)
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Journal Article
PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform
Liu, Shi-He, Rao, Donald D, Nemunaitis, John, Senzer, Neil, Zhou, Guisheng, Dawson, David, Gingras, Marie-Claude, Wang, Zhaohui, Gibbs, Richard, Norman, Michael, Templeton, Nancy S, Demayo, Francesco J, O'Malley, Bert, Sanchez, Robbi, Fisher, William E, Brunicardi, F Charles
Published in PloS one (08.08.2012)
Published in PloS one (08.08.2012)
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Journal Article
HD-PTP is a catalytically inactive tyrosine phosphatase due to a conserved divergence in its phosphatase domain
Gingras, Marie-Claude, Zhang, Yu Ling, Kharitidi, Dmitri, Barr, Alastair J, Knapp, Stefan, Tremblay, Michel L, Pause, Arnim
Published in PloS one (02.04.2009)
Published in PloS one (02.04.2009)
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Journal Article
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes
Totoki, Yasushi, Tatsuno, Kenji, Covington, Kyle R, Ueda, Hiroki, Creighton, Chad J, Kato, Mamoru, Tsuji, Shingo, Donehower, Lawrence A, Slagle, Betty L, Nakamura, Hiromi, Yamamoto, Shogo, Shinbrot, Eve, Hama, Natsuko, Lehmkuhl, Megan, Hosoda, Fumie, Arai, Yasuhito, Walker, Kim, Dahdouli, Mahmoud, Gotoh, Kengo, Nagae, Genta, Gingras, Marie-Claude, Muzny, Donna M, Ojima, Hidenori, Shimada, Kazuaki, Midorikawa, Yutaka, Goss, John A, Cotton, Ronald, Hayashi, Akimasa, Shibahara, Junji, Ishikawa, Shumpei, Guiteau, Jacfranz, Tanaka, Mariko, Urushidate, Tomoko, Ohashi, Shoko, Okada, Naoko, Doddapaneni, Harsha, Wang, Min, Zhu, Yiming, Dinh, Huyen, Okusaka, Takuji, Kokudo, Norihiro, Kosuge, Tomoo, Takayama, Tadatoshi, Fukayama, Masashi, Gibbs, Richard A, Wheeler, David A, Aburatani, Hiroyuki, Shibata, Tatsuhiro
Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
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Journal Article
The Hypofunctional Effect of P335L Single Nucleotide Polymorphism on SSTR5 Function
Zhou, Guisheng, Gingras, Marie-Claude, Liu, Shi-He, Li, Donghui, Li, Zhijun, Catania, Robbi L., Stehling, Kelly M., Li, Min, Paganelli, Giovanni, Gibbs, Richard A., DeMayo, Francesco J., Fisher, William E., Brunicardi, F. Charles
Published in World journal of surgery (01.08.2011)
Published in World journal of surgery (01.08.2011)
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Journal Article
Role of ESCRT component HD-PTP/ PTPN23 in cancer
Gingras, Marie-Claude, Kazan, Jalal M, Pause, Arnim
Published in Biochemical Society transactions (15.06.2017)
Published in Biochemical Society transactions (15.06.2017)
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