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  1. 1.   A patient-derived cell model for malignant transformation in IDH-mutant glioma
  2. Kim, Olga; Sergi, Zach; Yu, Guangyang; Yamamoto, Kazutoshi; Quezado, Martha; Abdullaev, Zied; Crooks, Danel R; Kishimoto, Shun; Li, Qi; Lu, Peng; Blackman, Burchelle; Andresson,Thorkell; Wu,Xiaolin; Tran,Bao; Wei, Jun S; Zhang, Wei; Zhang, Meili; Song, Hua; Khan, Javed; Krishna, Murali C; Brender, Jeffrey R; Wu, Jing
  3. Acta Neuropathologica Communications. 2024, Sep 10; 12(1): 148.
  1. 2.   K128 ubiquitination constrains RAS activity by expanding its binding interface with GAP proteins
  2. Magits, Wout; Steklov, Mikhail; Jang,Hyunbum; Sewduth, Raj N; Florentin, Amir; Lechat, Benoit; Sheryazdanova, Aidana; Zhang, Mingzhen; Simicek, Michal; Prag, Gali; Nussinov,Ruth; Sablina, Anna
  3. The EMBO Journal. 2024, Jun 10;
  1. 3.   Immune cell phenotype and function patterns across the life course in individuals from rural Uganda
  2. Nalwoga, Angela; Nakibuule, Marjorie; Roshan,Romin; Kwizera Mbonye, Moses; Miley,Wendell; Whitby,Denise; Newton, Robert; Rochford, Rosemary; Cose, Stephen
  3. Frontiers in Immunology. 2024 15: 1356635.
  1. 4.   Human gammaS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract
  2. Vendra, Venkata Pulla Rao; Ostrowski, Christian; Dyba, Marzena A; Tarasov,Sergey; Hejtmancik, J Fielding
  3. International Journal of Molecular Sciences. 2023, Sep 20; 24(18):
  1. 5.   Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders
  2. Patel,Rashmi; Singh, Subodh Kumar; Bhattacharya, Visweswar; Ali, Akhtar
  3. Journal of human genetics. 2021, Jul 28;
  1. 6.   Harnessing endophenotypes and network medicine for Alzheimer's drug repurposing
  2. Fang, Jiansong; Pieper, Andrew A.; Nussinov,Ruth; Lee, Garam; Bekris, Lynn; Leverenz, James B.; Cummings, Jeffrey; Cheng, Feixiong
  3. Medicinal research reviews. 2020, NOV; 40(6): 2386-2426.
  1. 7.   Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men
  2. Lin, Shu-Hong; Loftfield, Erikka; Sampson, Josh N; Zhou,Weiyin; Yeager,Meredith; Freedman, Neal D; Chanock, Stephen J; Machiela, Mitchell J
  3. Scientific reports. 2020, Feb 27; 10(1): 3655.
  1. 8.   Regulation of senescence and the SASP by the transcription factor C/EBP beta
  2. Salotti,Jacqueline; Johnson,Peter
  3. Experimental gerontology. 2019, Dec; 128
  1. 9.   Tandem Orthotopic Living Donor Liver Transplantation Followed by Same Donor Haploidentical Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency: Tandem Liver and Bone Marrow Transplant in DOCK8 Deficiency
  2. Freeman, Alexandra F; Yazigi, Nada; Shah, Nirali N; Kleiner, David E; Parta, Mark; Atkinson, Prescott; Heller, Theo; Holland, Steven M; Kaufman, Stuart S; Khan, Khalid M; Hickstein, Dennis D
  3. Transplantation. 2019, OCT; 103(10): 2144-2149.
  1. 10.   Durvalumab in Combination with Olaparib in Patients with Relapsed Small Cell Lung Cancer: Results from a Phase II Study
  2. Thomas, Anish; Vilimas, Rasa; Trindade, Christopher; Erwin-Cohen,Rebecca; Roper, Nitin; Xi, Liqiang; Krishnasamy, Venkatesh; Levy, Elliot; Mammen, Andy; Nichols, Samantha; Chen, Yuanbin; Velcheti, Vamsidhar; Yin, Faye; Szabo, Eva; Pommier, Yves; Steinberg, Seth M; Trepel, Jane B; Raffeld, Mark; Young,Howard; Khan, Javed; Hewitt, Stephen; Lee, Jung-Min
  3. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer. 2019, AUG; 14(8): 1447-1457.
  1. 11.   Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
  2. Larsen, Brian M; Cowan, Jennifer E; Wang, Yueqiang; Tanaka, Yu; Zhao, Yongge; Voisin, Benjamin; Constantinides, Michael G; Nagao, Keisuke; Belkaid, Yasmine; Awasthi,Roackie; Takahama, Yousuke; Bhandoola, Avinash
  3. Journal of immunology (Baltimore, Md. : 1950). 2019, AUG 1; 203(3): 686-695.
  1. 12.   Sulforaphane Suppresses the Growth of Triple-negative Breast Cancer Stem-like Cells In vitro and In vivo
  2. Castro, Nadia P.; Rangel, Maria C.; Merchant, Anand S.; MacKinnon, Gabriel; Cuttitta,Frank; Salomon,David; Kim, Young S.
  3. CANCER PREVENTION RESEARCH. 2019, Mar; 12(3): 147-158.
  1. 13.   Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data
  2. Gianferante, D Matthew; Rotunno, Melissa; Dean, Michael; Zhou, Weiyin; Hicks, Belynda; Wyatt, Kathleen; Jones, Kristine; Wang, Mingyi; Zhu, Bin; Goldstein, Alisa M; Mirabello, Lisa
  3. Molecular genetics & genomic medicine. 2018, Nov; 6(6): 1168-1180.
  1. 14.   Genetic effects on gene expression across human tissues
  2. Aguet, Francois; Brown, Andrew A.; Castel, Stephane E.; Davis, Joe R.; He, Yuan; Jo, Brian; Mohammadi, Pejman; Park, Yoson; Parsana, Princy; Segre, Ayellet V.; Strober, Benjamin J.; Zappala, Zachary; Cummings, Beryl B.; Gelfand, Ellen T.; Hadley, Kane; Huang, Katherine H.; Lek, Monkol; Li, Xiao; Nedzel, Jared L.; Nguyen, Duyen Y.; Noble, Michael S.; Sullivan, Timothy J.; Tukiainen, Taru; MacArthur, Daniel G.; Getz, Gad; Management, Nih Program; Addington, Anjene; Guan, Ping; Koester, Susan; Little, A. Roger; Lockhart, Nicole C.; Moore, Helen M.; Rao, Abhi; Struewing, Jeffery P.; Volpi, Simona; Collection, Biospecimen; Brigham, Lori E.; Hasz, Richard; Hunter, Marcus; Johns, Christopher; Johnson, Mark; Kopen, Gene; Leinweber, William F.; Lonsdale, John T.; McDonald, Alisa; Mestichelli, Bernadette; Myer, Kevin; Roe, Bryan; Salvatore, Michael; Shad, Saboor; Thomas, Jeffrey A.; Walters, Gary; Washington, Michael; Wheeler, Joseph; Bridge, Jason; Foster, Barbara A.; Gillard, Bryan M.; Karasik, Ellen; Kumar, Rachna; Miklos, Mark; Moser, Michael T.; Jewell, Scott D.; Montroy, Robert G.; Rohrer, Daniel C.; Valley, Dana; Mash, Deborah C.; Davis, David A.; Sobin, Leslie; Barcus, Mary; Branton, Philip A.; Grp, Eqtl Manuscript Working; Abell, Nathan S.; Balliu, Brunilda; Delaneau, Olivier; Fresard, Laure; Gamazon, Eric R.; Garrido-Martin, Diego; Gewirtz, Ariel D. H.; Gliner, Genna; Gloudemans, Michael J.; Han, Buhm; He, Amy Z.; Hormozdiari, Farhad; Li, Xin; Liu, Boxiang; Kang, Eun Yong; McDowell, Ian C.; Ongen, Halit; Palowitch, John J.; Peterson, Christine B.; Quon, Gerald; Ripke, Stephan; Saha, Ashis; Shabalin, Andrey A.; Shimko, Tyler C.; Sul, Jae Hoon; Teran, Nicole A.; Tsang, Emily K.; Zhang, Hailei; Zhou, Yi-Hui; Bustamante, Carlos D.; Cox, Nancy J.; Guigo, Roderic; Kellis, Manolis; McCarthy, Mark I.; Conrad, Donald F.; Eskin, Eleazar; Li, Gen; Nobel, Andrew B.; Sabatti, Chiara; Stranger, Barbara E.; Wen, Xiaoquan; Wright, Fred A.; Ardlie, Kristin G.; Dermitzakis, Emmanouil T.; Lappalainen, Tuuli; Battle, Alexis; Brown, Christopher D.; Engelhardt, Barbara E.; Montgomery, Stephen B.; Aguet, Francois; Ardlie, Kristin G.; Cummings, Beryl B.; Gelfand, Ellen T.; Getz, Gad; Hadley, Kane; Handsaker, Robert E.; Huang, Katherine H.; Kashin, Seva; Karczewski, Konrad J.; Lek, Monkol; Li, Xiao; MacArthur, Daniel G.; Nedzel, Jared L.; Nguyen, Duyen T.; Noble, Michael S.; Segre, Ayellet V.; Trowbridge, Casandra A.; Tukiainen, Taru; Abell, Nathan S.; Balliu, Brunilda; Barshir, Ruth; Basha, Omer; Battle, Alexis; Bogu, Gireesh K.; Brown, Andrew; Brown, Christopher D.; Castel, Stephane E.; Chen, Lin S.; Chiang, Colby; Conrad, Donald F.; Cox, Nancy J.; Damani, Farhan N.; Davis, Joe R.; Delaneau, Olivier; Dermitzakis, Emmanouil T.; Engelhardt, Barbara E.; Eskin, Eleazar; Ferreira, Pedro G.; Fresard, Laure; Gamazon, Eric R.; Garrido-Martin, Diego; Gewirtz, Ariel D. H.; Gliner, Genna; Gloudemans, Michael J.; Guigo, Roderic; Hall, Ira M.; Han, Buhm; He, Yuan; Hormozdiari, Farhad; Howald, Cedric; Im, Hae Kyung; Jo, Brian; Kang, Eun Yong; Kim, Yungil; Kim-Hellmuth, Sarah; Lappalainen, Tuuli; Li, Gen; Li, Xin; Liu, Boxiang; Mangul, Serghei; McCarthy, Mark I.; McDowell, Ian C.; Mohammadi, Pejman; Monlong, Jean; Montgomery, Stephen B.; Munoz-Aguirre, Manuel; Ndungu, Anne W.; Nicolae, Dan L.; Nobel, Andrew B.; Oliva, Meritxell; Ongen, Halit; Palowitch, John J.; Panousis, Nikolaos; Papasaikas, Panagiotis; Park, Yoson; Parsana, Princy; Payne, Anthony J.; Peterson, Christine B.; Quan, Jie; Reverter, Ferran; Sabatti, Chiara; Saha, Ashis; Sammeth, Michael; Scott, Alexandra J.; Shabalin, Andrey A.; Sodaei, Reza; Stephens, Matthew; Stranger, Barbara E.; Strober, Benjamin J.; Sul, Jae Hoon; Tsang, Emily K.; Urbut, Sarah; De Bunt, Martijn Van; Wang, Gao; Wen, Xiaoquan; Wright, Fred A.; Xi, Hualin S.; Yeger-Lotem, Esti; Zappala, Zachary; Zaugg, Judith B.; Zhou, Yi-Hui; Akey, Joshua M.; Bates, Daniel; Chan, Joanne; Chen, Lin S.; Claussnitzer, Melina; Demanelis, Kathryn; Diegel, Morgan; Doherty, Jennifer A.; Feinberg, Andrew P.; Fernando, Marian S.; Halow, Jessica; Hansen, Kasper D.; Haugen, Eric; Hickey, Peter F.; Hou, Lei; Jasmine, Farzana; Jian, Ruiqi; Jiang, Lihua; Johnson, Audra; Kaul, Rajinder; Kellis, Manolis; Kibriya, Muhammad G.; Lee, Kristen; Li, Jin Billy; Li, Qin; Li, Xiao; Lin, Jessica; Lin, Shin; Linder, Sandra; Linke, Caroline; Liu, Yaping; Maurano, Matthew T.; Molinie, Benoit; Montgomery, Stephen B.; Nelson, Jemma; Neri, Fidencio J.; Oliva, Meritxell; Park, Yongjin; Pierce, Brandon L.; Rinaldi, Nicola J.; Rizzardi, Lindsay F.; Sandstrom, Richard; Skol, Andrew; Smith, Kevin S.; Snyder, Michael P.; Stamatoyannopoulos, John; Stranger, Barbara E.; Tang, Hua; Tsang, Emily K.; Wang, Li; Wang, Meng; Van Wittenberghe, Nicholas; Wu, Fan; Zhang, Rui; Fund, Nih Common; Nierras, Concepcion R.; Nci, Nih; Branton, Philip A.; Carithers, Latarsha J.; Guan, Ping; Moore, Helen M.; Rao, Abhi; Vaught, Jimmie B.; Nhgri, Nih; Gould, Sarah E.; Lockart, Nicole C.; Martin, Casey; Struewing, Jeffery P.; Volpi, Simona; Nimh, Nih; Addington, Anjene M.; Koester, Susan E.; Nida, Nih; Little, A. Roger; Brigham, Lori E.; Hasz, Richard; Hunter, Marcus; Johns, Christopher; Johnson, Mark; Kopen, Gene; Leinweber, William F.; Lonsdale, John T.; McDonald, Alisa; Mestichelli, Bernadette; Myer, Kevin; Roe, Brian; Salvatore, Michael; Shad, Saboor; Thomas, Jeffrey A.; Walters, Gary; Washington, Michael; Wheeler, Joseph; Bridge, Jason; Foster, Barbara A.; Gillard, Bryan M.; Karasik, Ellen; Kumar, Rachna; Miklos, Mark; Moser, Michael T.; Jewell, Scott D.; Montroy, Robert G.; Rohrer, Daniel C.; Valley, Dana R.; Davis, David A.; Mash, Deborah C.; Undale, Anita H.; Smith, Anna M.; Tabor, David E.; Roche, Nancy V.; McLean, Jeffrey A.; Vatanian, Negin; Robinson, Karna L.; Sobin, Leslie; Barcus, Mary E.; Valentino, Kimberly M.; Qi, Liqun; Hunter, Steven; Hariharan, Pushpa; Singh, Shilpi; Um, Ki Sung; Matose, Takunda; Tomaszewski, Maria M.; Study, Elsi; Barker, Laura K.; Mosavel, Maghboeba; Siminoff, Laura A.; Traino, Heather M.; Flicek, Paul; Juettemann, Thomas; Ruffier, Magali; Sheppard, Dan; Taylor, Kieron; Trevanion, Stephen J.; Zerbino, Daniel R.; Craft, Brian; Goldman, Mary; Haeussler, Maximilian; Kent, W. James; Lee, Christopher M.; Paten, Benedict; Rosenbloom, Kate R.; Vivian, John; Zhu, Jingchun
  3. NATURE. 2017, OCT 12; 550(7675): 204-+.
  1. 15.   Generation of Transmitted/Founder HIV-1 Infectious Molecular Clones and Characterization of Their Replication Capacity in CD4 T Lymphocytes and Monocyte-Derived Macrophages
  2. Ochsenbauer, C.; Edmonds, T. G.; Ding, H. T.; Keele, B. F.; Decker, J.; Salazar, M. G.; Salazar-Gonzalez, J. F.; Shattock, R.; Haynes, B. F.; Shaw, G. M.; Hahn, B. H.; Kappes, J. C.
  3. Journal of Virology. 2012, Mar; 86(5): 2715-2728.
  1. 16.   Ablation of the transcriptional regulator Id1 enhances energy expenditure, increases insulin sensitivity, and protects against age and diet induced insulin resistance, and hepatosteatosis
  2. Satyanarayana, A.; Klarmann, K. D.; Gavrilova, O.; Keller, J. R.
  3. Faseb Journal. 2012, Jan; 26(1): 309-323.
  1. 17.   GWASdb: a database for human genetic variants identified by genome-wide association studies
  2. Li, M. L. J.; Wang, P. W.; Liu, X. R.; Lim, E. L.; Wang, Z. Y.; Yeager, M.; Wong, M. P.; Sham, P. C.; Chanock, S. J.; Wang, J. W.
  3. Nucleic Acids Research. 2012, Jan; 40(D1): D1047-D1054.
  1. 18.   A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3
  2. Garcia-Closas, M.; Ye, Y. Q.; Rothman, N.; Figueroa, J. D.; Malats, N.; Dinney, C. P.; Chatterjee, N.; Prokunina-Olsson, L.; Wang, Z. M.; Lin, J.; Real, F. X.; Jacobs, K. B.; Baris, D.; Thun, M.; De Vivo, I.; Albanes, D.; Purdue, M. P.; Kogevinas, M.; Kamat, A. M.; Lerner, S. P.; Grossman, H. B.; Gu, J.; Pu, X.; Hutchinson, A.; Fu, Y. P.; Burdett, L.; Yeager, M.; Tang, W.; Tardon, A.; Serra, C.; Carrato, A.; Garcia-Closas, R.; Lloreta, J.; Johnson, A.; Schwenn, M.; Karagas, M. R.; Schned, A.; Andriole, G.; Grubb, R.; Black, A.; Jacobs, E. J.; Diver, W. R.; Gapstur, S. M.; Weinstein, S. J.; Virtamo, J.; Hunter, D. J.; Caporaso, N.; Landi, M. T.; Fraumeni, J. F.; Silverman, D. T.; Chanock, S. J.; Wu, X. F.
  3. Human Molecular Genetics. 2011, Nov; 20(21): 4282-4289.
  1. 19.   Analysis of the ABCA4 Gene by Next-Generation Sequencing
  2. Zernant, J.; Schubert, C.; Im, K. M.; Burke, T.; Brown, C. M.; Fishman, G. A.; Tsang, S. H.; Gouras, P.; Dean, M.; Allikmets, R.
  3. Investigative Ophthalmology & Visual Science. 2011, Oct; 52(11): 8479-8487.
  1. 20.   The phenotypic and functional consequences of tumour necrosis factor receptor type 2 expression on CD4(+) FoxP3(+) regulatory T cells
  2. Chen, X.; Oppenheim, J. J.
  3. Immunology. 2011, Aug; 133(4): 426-433.
  1. 21.   Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dube Syndrome
  2. Benhammou, J. N. B. J. N.; Vocke, C. D.; Santani, A.; Schmidt, L. S.; Baba, M.; Seyama, K.; Wu, X. L.; Korolevich, S.; Nathanson, K. L.; Stolle, C. A.; Linehan, W. M.
  3. Genes Chromosomes & Cancer. 2011, Jun; 50(6): 466-477.
  1. 22.   Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)
  2. Heimall, J.; Davis, J.; Shaw, P. A.; Hsu, A. P.; Gu, W. J.; Welch, P.; Holl, S. M.; Freeman, A. F.
  3. Clinical Immunology. 2011, Apr; 139(1): 75-84.
  1. 23.   Back to the Future: Proceedings From the 2010 NF Conference
  2. Huson, S. M.; Acosta, M. T.; Belzberg, A. J.; Bernards, A.; Chernoff, J.; Cichowski, K.; Evans, D. G.; Ferner, R. E.; Giovannini, M.; Korf, B. R.; Listernick, R.; North, K. N.; Packer, R. J.; Parada, L. F.; Peltonen, J.; Ramesh, V.; Reilly, K. M.; Risner, J. W.; Schorry, E. K.; Upadhyaya, M.; Viskochil, D. H.; Zhu, Y. A.; Hunter-Schaedle, K.; Giancotti, F. G.
  3. American Journal of Medical Genetics Part A. 2011, Feb; 155A(2): 307-321.
  1. 24.   The abcc6a Gene Expression Is Required for Normal Zebrafish Development
  2. Li, Q. L.; Sadowski, S.; Frank, M.; Chai, C. L.; Varadi, A.; Ho, S. Y.; Lou, H.; Dean, M.; Thisse, C.; Thisse, B.; Uitto, J.
  3. Journal of Investigative Dermatology. 2010, Nov; 130(11): 2561-2568.
  1. 25.   Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
  2. Gaudet, M. M.; Kirchhoff, T.; Green, T.; Vijai, J.; Korn, J. M.; Guiducci, C.; Segre, A. V.; McGee, K.; McGuffog, L.; Kartsonaki, C.; Morrison, J.; Healey, S.; Sinilnikova, O. M.; Stoppa-Lyonnet, D.; Mazoyer, S.; Gauthier-Villars, M.; Sobol, H.; Longy, M.; Frenay, M.; Hogervorst, F. B. L.; Rookus, M. A.; Collee, J. M.; Hoogerbrugge, N.; van Roozendaal, K. E. P.; Piedmonte, M.; Rubinstein, W.; Nerenstone, S.; Van Le, L.; Blank, S. V.; Caldes, T.; de la Hoya, M.; Nevanlinna, H.; Aittomaki, K.; Lazaro, C.; Blanco, I.; Arason, A.; Johannsson, O. T.; Barkardottir, R. B.; Devilee, P.; Olopade, O. I.; Neuhausen, S. L.; Wang, X. S.; Fredericksen, Z. S.; Peterlongo, P.; Manoukian, S.; Barile, M.; Viel, A.; Radice, P.; Phelan, C. M.; Narod, S.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I. L.; Glendon, G.; Ozcelik, H.; Tol, A. E.; Montagna, M.; D'Andrea, E.; Friedman, E.; Laitman, Y.; Borg, A.; Beattie, M.; Ramus, S. J.; Domchek, S. M.; Nathanson, K. L.; Rebbeck, T.; Spurdle, A. B.; Chen, X. Q.; Holl, H.; John, E. M.; Hopper, J. L.; Buys, S. S.; Daly, M. B.; Southey, M. C.; Terry, M. B.; Tung, N.; Hansen, T. V. O.; Nielsen, F. C.; Greene, M. I.; Mai, P. L.; Osorio, A.; Duran, M.; Andres, R.; Benitez, J.; Weitzel, J. N.; Garber, J.; Hamann, U.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Platte, R.; Evans, D. G.; Lalloo, F.; Eeles, R.; Izatt, L.; Walker, L.; Eason, J.; Barwell, J.; Godwin, A. K.; Schmutzler, R. K.; Wappenschmidt, B.; Engert, S.; Arnold, N.; Gadzicki, D.; Dean, M.; Gold, B.; Klein, R. J.; Couch, F. J.; Chenevix-Trench, G.; Easton, D. F.; Daly, M. J.; Antoniou, A. C.; Altshuler, D. M.; Offit, K.; kConFab, G. S. C. H. S. C. O.
  3. Plos Genetics. 2010, Oct; 6(10): 12.
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