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  1. 1.   Deletion of a single CTCF motif at the boundary of a chromatin domain with three FGF genes disrupts gene expression and embryonic development
  2. Chakraborty, Shreeta; Wenzlitschke, Nina; Anderson,Matthew; Eraso, Ariel; Baudic, Manon; Thompson, Joyce J; Evans, Alicia A; Shatford-Adams, Lilly M; Chari,Raj; Awasthi,Roackie; Dale, Ryan K; Lewandoski,Mark; Petros, Timothy J; Rocha, Pedro P
  3. Developmental Cell. 2025, Feb 24;
  1. 2.   Epigenetic associations with kidney disease in individuals of African ancestry with APOL1 high-risk genotypes and Human Immunodeficiency Virus
  2. Hung, Rachel K Y; Costeira, Ricardo; Chen, Junyu; Schlosser, Pascal; Grundner-Culemann, Franziska; Booth, John W; Sharpe, Claire C; Bramham, Kate; Sun, Yan V; Marconi, Vincent C; Teumer, Alexander; Winkler,Cheryl; Post, Frank A; Bell, Jordana T
  3. Nephrology, Dialysis, Transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2024, Oct 24;
  1. 3.   A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
  2. Vocke, Cathy D; Ricketts, Christopher J; Pack, Svetlana; Raffeld, Mark; Hewitt, Stephen; Lebensohn, Alexandra P; O'Brien, Lidenys; Gautam, Rabindra; Reynolds, Krista; Schmidt,Laura; Choo, Kristin; Kenigsberg, Alex; Gurram, Sandeep; Chew, Emily Y; Nilubol, Naris; Chittaboina, Prashant; Merino, Maria J; Ball, Mark W; Linehan, W Marston
  3. Journal of Medical Genetics. 2024, Sep 24;
  1. 4.   Polymorphic residues in HLA-B that mediate HIV control distinctly modulate peptide interactions with both TCR and KIR molecules
  2. Tano-Menka, Rhoda; Singh, Nishant K; Muzhingi, Itai; Li, Xiaolong; Mandanas, Michael V; Kaseke, Clarety; Crain, Charles R; Zhang, Angela; Ogunshola, Funsho J; Vecchiarello, Liza; Piechocka-Trocha, Alicja; Bashirova,Arman; Birnbaum, Michael E; Carrington,Mary; Walker, Bruce D; Gaiha, Gaurav D
  3. Structure (London, England : 1993). 2024, May 07;
  1. 5.   The association between single-nucleotide polymorphisms within type 1 interferon pathway genes and human immunodeficiency virus type 1 viral load in antiretroviral-naïve participants
  2. Mørup, Sara Bohnstedt; Leung, Preston; Reilly, Cavan; Sherman,Brad; Chang,Weizhong; Milojevic, Maja; Milinkovic, Ana; Liappis, Angelike; Borgwardt, Line; Petoumenos, Kathy; Paredes, Roger; Mistry, Shweta S; MacPherson, Cameron R; Lundgren, Jens; Helleberg, Marie; Reekie, Joanne; Murray, Daniel D
  3. AIDS Research and Therapy. 2024, May 03; 21(1): 27.
  1. 6.   Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans
  2. McQuillan, Michael A; Verhulst, Simon; Hansen, Matthew E B; Beggs, William; Meskel, Dawit Wolde; Belay, Gurja; Nyambo, Thomas; Mpoloka, Sununguko Wata; Mokone, Gaonyadiwe George; Fokunang, Charles; Njamnshi, Alfred K; Chanock, Stephen J; Aviv, Abraham; Tishkoff, Sarah A
  3. American Journal of Human Genetics. 2024, May 02; 111(5): 927-938.
  1. 7.   Mismatch repair protein MLH1 suppresses replicative stress in BRCA2 deficient breast tumors
  2. Sengodan,Satheesh; Hu, Xiaoju; Peddibhotla, Vaishnavi; Balamurugan, Kuppusamy; Mitrophanov,Alex; McKennett,Lois; Kharat, Suhas S; Sanawar, Rahul; Singh, Vinod Kumar; Albaugh,Mary; Burkett,Sandra; Zhao,Yongmei; Tran,Bao; Malys,Tyler; Sterneck,Esta; De, Subhajyoti; Sharan,Shyam
  3. The Journal of Clinical Investigation. 2024, Jan 25; 134(7):
  1. 8.   Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers
  2. Lim, Wan Ching; Marques Da Costa, Maria Eugenia; Godefroy, Karine; Jacquet, Eric; Gragert, Loren; Rondof, Windy; Marchais, Antonin; Nhiri, Naima; Dalfovo, Davide; Viard,Mathias; Labaied, Nizar; Khan, Asif M; Dessen, Philippe; Romanel, Alessandro; Pasqualini, Claudia; Schleiermacher, Gudrun; Carrington,Mary; Zitvogel, Laurence; Scoazec, Jean-Yves; Geoerger, Birgit; Salmon, Jerome
  3. Frontiers in Immunology. 2024, Jan 22; 14: 1265469.
  1. 9.   Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
  2. Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlíková Pourová, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan C; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith S; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond J; Lyons, Michael J; Douglas, Jessica; Nowak, Catherine B; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo,Lino; Tomassoni Ardori,Francesco; Palko,Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Ange-Line, Bruel; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan J; Randolph, Linda M; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Abdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane Mr; Shoubridge, Cheryl; Corbett, Mark A; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen A; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
  3. The Journal of clinical investigation. 2024, Jan 2; 134(1): e171235.
  1. 10.   Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs
  2. Biswas,Kajal; Mitrophanov,Alex; Sahu,Sounak; Sullivan,Teresa; Southon,Eileen; Nousome,Darryl; Reid, Susan; Narula, Sakshi; Smolen, Julia; Sengupta, Trisha; Riedel-Topper, Maximilian; Kapoor, Medha; Babbar, Anav; Stauffer,Stacey; Cleveland, Linda; Tandon, Mayank; Malys,Tyler; Sharan,Shyam
  3. Cell Reports Methods. 2023, Nov 20; 3(11): 100628.
  1. 11.   Protocol for the saturation and multiplexing of genetic variants using CRISPR-Cas9
  2. Sahu,Sounak; Sullivan,Teresa; Southon,Eileen; Caylor,Dylan; Geh, Josephine; Sharan,Shyam
  3. STAR Protocols. 2023, Nov 08; 4(4): 102702.
  1. 12.   HLA-DPA1*02:01~B1*01:01 is a risk haplotype for primary sclerosing cholangitis mediating activation of NKp44+ NK cells
  2. Zecher, Britta F; Ellinghaus, David; Schloer, Sebastian; Niehrs, Annika; Padoan, Benedetta; Baumdick, Martin E; Yuki,Yuko; Martin, Maureen P; Glow, Dawid; Schröder-Schwarz, Jennifer; Niersch, Jennifer; Brias, Sébastien; Müller, Luisa M; Habermann, Robin; Kretschmer, Paul; Früh, Tristan; Dänekas, Janis; Wehmeyer, Malte H; Poch, Tobias; Sebode, Marcial; Ellinghaus, Eva; Degenhardt, Frauke; Körner, Christian; Hoelzemer, Angelique; Fehse, Boris; Oldhafer, Karl J; Schumacher, Udo; Sauter, Guido; Carrington,Mary; Franke, Andre; Bunders, Madeleine J; Christoph, Schramm; Altfeld, Marcus
  3. Gut. 2023, Oct 03;
  1. 13.   In utero exposure to diethylstilbestrol and blood DNA methylation in adult women: Results from a meta-analysis of two cohort studies
  2. Bodelon, Clara; Gierach, Gretchen L; Hatch, Elizabeth E; Riseberg, Emily; Hutchinson,Amy; Yeager,Meredith; Sandler, Dale P; Taylor, Jack A; Hoover, Robert N; Xu, Zongli; Titus, Linda; Palmer, Julie R; Troisi, Rebecca
  3. Environmental Research. 2023, Aug 15; 231(Pt. 1): 115990.
  1. 14.   Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights
  2. Koutros, Stella; Kiemeney, Lambertus A; Pal Choudhury, Parichoy; Milne, Roger L; Lopez de Maturana, Evangelina; Ye, Yuanqing; Joseph, Vijai; Florez-Vargas, Oscar; Dyrskjøt, Lars; Figueroa, Jonine; Dutta, Diptavo; Giles, Graham G; Hildebrandt, Michelle A T; Offit, Kenneth; Kogevinas, Manolis; Weiderpass, Elisabete; McCullough, Marjorie L; Freedman, Neal D; Albanes, Demetrius; Kooperberg, Charles; Cortessis, Victoria K; Karagas, Margaret R; Johnson, Alison; Schwenn, Molly R; Baris, Dalsu; Furberg, Helena; Bajorin, Dean F; Cussenot, Olivier; Cancel-Tassin, Geraldine; Benhamou, Simone; Kraft, Peter; Porru, Stefano; Carta, Angela; Bishop, Timothy; Southey, Melissa C; Matullo, Giuseppe; Fletcher, Tony; Kumar, Rajiv; Taylor, Jack A; Lamy, Philippe; Prip, Frederik; Kalisz, Mark; Weinstein, Stephanie J; Hengstler, Jan G; Selinski, Silvia; Harland, Mark; Teo, Mark; Kiltie, Anne E; Tardón, Adonina; Serra, Consol; Carrato, Alfredo; García-Closas, Reina; Lloreta, Josep; Schned, Alan; Lenz,Petra; Riboli, Elio; Brennan, Paul; Tjønneland, Anne; Otto, Thomas; Ovsiannikov, Daniel; Volkert, Frank; Vermeulen, Sita H; Aben, Katja K; Galesloot, Tessel E; Turman, Constance; De Vivo, Immaculata; Giovannucci, Edward; Hunter, David J; Hohensee, Chancellor; Hunt, Rebecca; Patel, Alpa V; Huang, Wen-Yi; Thorleifsson, Gudmar; Gago-Dominguez, Manuela; Amiano, Pilar; Golka, Klaus; Stern, Mariana C; Yan, Wusheng; Liu,Jia; Li,Shengchao; Katta,Shilpa; Hutchinson,Amy; Hicks,Belynda; Wheeler, William A; Purdue, Mark P; McGlynn, Katherine A; Kitahara, Cari M; Haiman, Christopher A; Greene, Mark H; Rafnar, Thorunn; Chatterjee, Nilanjan; Chanock, Stephen J; Wu, Xifeng; Real, Francisco X; Silverman, Debra T; Garcia-Closas, Montserrat; Stefansson, Kari; Prokunina-Olsson, Ludmila; Malats, Núria; Rothman, Nathaniel
  3. European Urology. 2023, Jul; 48(1): 127-137.
  1. 15.   Protocol for using single-cell sequencing to study the heterogeneity of NF1 nerve sheath tumors from clinical biospecimens
  2. Zhang, Xiyuan; Gopalan, Vishaka; Syed,Neeraja; Hannenhalli, Sridhar; Shern, Jack F
  3. STAR Protocols. 2023, May 10; 4(2): 102297.
  1. 16.   Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes
  2. Rocco, Joseph M; Laidlaw, Elizabeth; Galindo, Frances; Anderson, Megan; Sortino, Ornella; Kuriakose,Safia; Lisco, Andrea; Manion, Maura; Sereti, Irini
  3. The Journal of Infectious Diseases. 2023, Apr 11;
  1. 17.   Immunogenetics associated with severe coccidioidomycosis
  2. Hsu, Amy P; Korzeniowska, Agnieszka; Aguilar, Cynthia C; Gu, Jingwen; Karlins, Eric; Oler, Andrew J; Chen, Gang; Reynoso, Glennys V; Davis, Joie; Chaput, Alexandria; Peng, Tao; Sun, Ling; Lack, Justin B; Bays, Derek J; Stewart, Ethan R; Waldman, Sarah E; Powell, Daniel A; Donovan, Fariba M; Desai, Jigar V; Pouladi, Nima; Long Priel, Debra A; Yamanaka, Daisuke; Rosenzweig, Sergio D; Niemela, Julie E; Stoddard, Jennifer; Freeman, Alexandra F; Zerbe, Christa S; Kuhns, Douglas B; Lussier, Yves A; Olivier, Kenneth N; Boucher, Richard C; Hickman, Heather D; Frelinger, Jeffrey; Fierer, Joshua; Shubitz, Lisa F; Leto, Thomas L; Thompson Iii, George R; Galgiani, John N; Lionakis, Michail S; Holland, Steven M
  3. JCI insight. 2022, Sep 27; e159491.
  1. 18.   Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa
  2. Nandlal, Louansha; Winkler, Cheryl A; Bhimma, Rajendra; Cho, Sungkweon; Nelson,George; Haripershad, Sudesh; Naicker, Thajasvarie
  3. European Journal of Pediatrics. 2022, Aug 03;
  1. 19.   Apolipoprotein L1 High-Risk Genotypes and Albuminuria in Sub-Saharan African Populations
  2. Brandenburg, Jean-Tristan; Govender, Melanie A; Winkler,Cheryl; Boua, Palwende Romuald; Agongo, Godfred; Fabian, June; Ramsay, Michèle
  3. Clinical Journal of the American Society of Nephrology : CJASN. 2022, May 16; 17
  1. 20.   CpG Site-Specific Methylation-Modulated Divergent Expression of PRSS3 Transcript Variants Facilitates Nongenetic Intratumor Heterogeneity in Human Hepatocellular Carcinoma
  2. Lin, Shuye; Xu, Hanli; Pang, Mengdi; Zhou, Xiaomeng; Pan, Yuanming; Zhang, Lishu; Guan, Xin; Wang, Xiaoyue; Lin, Bonan; Tian, Rongmeng; Chen,Keqiang; Zhang, Xiaochen; Yang, Zijiang; Ji, Fengmin; Huang, Yingying; Wei, Wu; Gong,Wang; Ren, Jianke; Wang,Jiming; Guo, Mingzhou; Huang, Jiaqiang
  3. Frontiers in Oncology. 2022, Apr 11; 12: 831268.
  1. 21.   Trans-ancestral fine-mapping of MHC reveals key amino acids associated with spontaneous clearance of hepatitis C in HLA-DQß1
  2. Valencia, Ana; Vergara, Candelaria; Thio, Chloe L; Vince, Nicolas; Douillard, Venceslas; Grifoni, Alba; Cox, Andrea L; Johnson, Eric O; Kral, Alex H; Goedert, James J; Mangia, Alessandra; Piazzolla, Valeria; Mehta, Shruti H; Kirk, Gregory D; Kim, Arthur Y; Lauer, Georg M; Chung, Raymond T; Price, Jennifer C; Khakoo, Salim I; Alric, Laurent; Cramp, Matthew E; Donfield, Sharyne M; Edlin, Brian R; Busch, Michael P; Alexander, Graeme; Rosen, Hugo R; Murphy, Edward L; Wojcik, Genevieve L; Carrington,Mary; Gourraud, Pierre-Antoine; Sette, Alessandro; Thomas, David L; Duggal, Priya
  3. American journal of human genetics. 2022, Jan 25; 109(2): 299-310.
  1. 22.   A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
  2. Ricketts, Christopher J; Vocke, Cathy D; Lang, Martin; Chen,Jack; Zhao,Yongmei; Tran,Bao; Tandon, Mayank; Schmidt, Laura S; Ball, Mark W; Linehan, W Marston
  3. Journal of Medical Genetics. 2022, Jan; 59(1): 18-22.
  1. 23.   Spatial and Functional Organization of Human Papillomavirus Replication Foci in the Productive Stage of Infection
  2. Khurana, Simran; Markowitz,Tovah; Kabat, Juraj; McBride, Alison A
  3. mBio. 2021, Dec 21; 12(6): e0268421.
  1. 24.   Association of GSTM1 Deletion With Progression of CKD in Children: Findings From the Chronic Kidney Disease in Children (CKiD) Study
  2. Levy, Rebecca V; Reidy, Kimberly J; Le, Thu H; David,Victor; Winkler,Cheryl; Xu, Yunwen; Warady, Bradley; Furth, Susan; Kaskel, Frederick; Melamed, Michal L
  3. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 2021, Dec 03;
  1. 25.   PARIS farnesylation prevents neurodegeneration in models of Parkinson's disease
  2. Jo, Areum; Lee, Yunjong; Kam, Tae-In; Kang, Sung-Ung; Neifert, Stewart; Karuppagounder, Senthilkumar S.; Khang, Rin; Kang, Hojin; Park, Hyejin; Chou, Shih-Ching; Oh, Sungtaek; Jiang, Haisong; Swing, Deborah A.; Ham, Sangwoo; Pirooznia, Sheila; Umanah, George K. E.; Mao, Xiaobo; Kumar, Manoj; Ko, Han Seok; Kang, Ho Chul; Lee, Byoung Dae; Lee, Yun-Il; Andrabi, Shaida A.; Park, Chi-Hu; Lee, Ji-Yeong; Kim, Hanna; Kim, Hyein; Kim, Hyojung; Cho, Jin Whan; Paek, Sun Ha; Na, Chan Hyun; Tessarollo,Lino; Dawson, Valina L.; Dawson, Ted M.; Shin, Joo-Ho
  3. Science translational medicine. 2021, Jul 28; 13(604):
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