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  1. 1.   Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia
  2. Strauss, Joshua D; Brown, Derek W; Zhou, Weiyin; Dagnall,Casey; Yuan, Jian-Min; Im, Annie; Savage, Sharon A; Wang, Youjin; Rafati, Maryam; Spellman, Stephen R; Gadalla, Shahinaz M
  3. British Journal of Haematology. 2024, Aug 05;
  1. 2.   Verification of CRISPR editing and finding transgenic inserts by Xdrop indirect sequence capture followed by short- and long-read sequencing
  2. Blondal, Thorarinn; Gamba, Cristina; Jagd, Lea Moller; Su,Ling; Demirov,Dimiter; Guo,Amber; Johnston, Camille M.; Riising, Eva M.; Wu,Xiaolin; Mikkelsen, Marie J.; Szabova,Ludmila; Mouritzen, Peter
  3. Methods. 2021, Jul; 191: 68-77.
  1. 3.   HLA zygosity increases risk of hepatitis B virus-associated hepatocellular carcinoma
  2. Liu, Zhiwei; Huang, Chih-Jen; Huang, Yu-Han; Pan, Mei-Hung; Lee, Mei-Hsuan; Yu, Kelly J; Pfeiffer, Ruth M; Viard, Mathias; Yuki, Yuko; Gao, Xiaojiang; Carrington, Mary; Chen, Chien-Jen; Hildesheim, Allan; Yang, Hwai-I
  3. The Journal of Infectious Diseases. 2021, Apr 14;
  1. 4.   Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes
  2. Moore, Amy; Machiela, Mitchell J; Machado, Moara; Wang, Sophia S; Kane, Eleanor; Slager, Susan L; Zhou, Weiyin; Carrington,Mary; Lan, Qing; Milne, Roger L; Birmann, Brenda M; Adami, Hans-Olov; Albanes, Demetrius; Arslan, Alan A; Becker, Nikolaus; Benavente, Yolanda; Bisanzi, Simonetta; Boffetta, Paolo; Bracci, Paige M; Brennan, Paul; Brooks-Wilson, Angela R; Canzian, Federico; Caporaso, Neil; Clavel, Jacqueline; Cocco, Pierluigi; Conde, Lucia; Cox, David G; Cozen, Wendy; Curtin, Karen; De Vivo, Immaculata; de Sanjose, Silvia; Foretova, Lenka; Gapstur, Susan M; Ghesquières, Hervè; Giles, Graham G; Glenn, Martha; Glimelius, Bengt; Gao, Chi; Habermann, Thomas M; Hjalgrim, Henrik; Jackson, Rebecca D; Liebow, Mark; Link, Brian K; Maynadie, Marc; McKay, James; Melbye, Mads; Miligi, Lucia; Molina, Thierry J; Monnereau, Alain; Nieters, Alexandra; North, Kari E; Offit, Kenneth; Patel, Alpa V; Piro, Sara; Ravichandran, Vignesh; Riboli, Elio; Salles, Gilles; Severson, Richard K; Skibola, Christine F; Smedby, Karin E; Southey, Melissa C; Spinelli, John J; Staines, Anthony; Stewart, Carolyn; Teras, Lauren R; Tinker, Lesley F; Travis, Ruth C; Vajdic, Claire M; Vermeulen, Roel C H; Vijai, Joseph; Weiderpass, Elisabete; Weinstein, Stephanie; Doo, Nicole Wong; Zhang, Yawei; Zheng, Tongzhang; Chanock, Stephen J; Rothman, Nathaniel; Cerhan, James R; Dean,Michael; Camp, Nicola J; Yeager,Meredith; Berndt, Sonja I
  3. Journal of translational genetics and genomics. 2021 5: 200-217.
  1. 5.   Associations of autozygosity with a broad range of human phenotypes
  2. Clark, David W; Okada, Yukinori; Moore, Kristjan H S; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L K; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M; Baumbach, Clemens; Biino, Ginevra; Bixley, Matthew J; Brumat, Marco; Chai, Jin-Fang; Corre, Tanguy; Cousminer, Diana L; Dekker, Annelot M; Eccles, David A; van Eijk, Kristel R; Fuchsberger, Christian; Gao, He; Germain, Marine; Gordon, Scott D; de Haan, Hugoline G; Harris, Sarah E; Hofer, Edith; Huerta-Chagoya, Alicia; Igartua, Catherine; Jansen, Iris E; Jia, Yucheng; Kacprowski, Tim; Karlsson, Torgny; Kleber, Marcus E; Li,Shengchao; Li-Gao, Ruifang; Mahajan, Anubha; Matsuda, Koichi; Meidtner, Karina; Meng, Weihua; Montasser, May E; van der Most, Peter J; Munz, Matthias; Nutile, Teresa; Palviainen, Teemu; Prasad, Gauri; Prasad, Rashmi B; Priyanka, Tallapragada Divya Sri; Rizzi, Federica; Salvi, Erika; Sapkota, Bishwa R; Shriner, Daniel; Skotte, Line; Smart, Melissa C; Smith, Albert Vernon; van der Spek, Ashley; Spracklen, Cassandra N; Strawbridge, Rona J; Tajuddin, Salman M; Trompet, Stella; Turman, Constance; Verweij, Niek; Viberti, Clara; Wang, Lihua; Warren, Helen R; Wootton, Robyn E; Yanek, Lisa R; Yao, Jie; Yousri, Noha A; Zhao, Wei; Adeyemo, Adebowale A; Afaq, Saima; Aguilar-Salinas, Carlos Alberto; Akiyama, Masato; Albert, Matthew L; Allison, Matthew A; Alver, Maris; Aung, Tin; Azizi, Fereidoun; Bentley, Amy R; Boeing, Heiner; Boerwinkle, Eric; Borja, Judith B; de Borst, Gert J; Bottinger, Erwin P; Broer, Linda; Campbell, Harry; Chanock, Stephen; Chee, Miao-Li; Chen, Guanjie; Chen, Yii-Der I; Chen, Zhengming; Chiu, Yen-Feng; Cocca, Massimiliano; Collins, Francis S; Concas, Maria Pina; Corley, Janie; Cugliari, Giovanni; van Dam, Rob M; Damulina, Anna; Daneshpour, Maryam S; Day, Felix R; Delgado, Graciela E; Dhana, Klodian; Doney, Alexander S F; Dörr, Marcus; Doumatey, Ayo P; Dzimiri, Nduna; Ebenesersdóttir, S Sunna; Elliott, Joshua; Elliott, Paul; Ewert, Ralf; Felix, Janine F; Fischer, Krista; Freedman, Barry I; Girotto, Giorgia; Goel, Anuj; Gögele, Martin; Goodarzi, Mark O; Graff, Mariaelisa; Granot-Hershkovitz, Einat; Grodstein, Francine; Guarrera, Simonetta; Gudbjartsson, Daniel F; Guity, Kamran; Gunnarsson, Bjarni; Guo, Yu; Hagenaars, Saskia P; Haiman, Christopher A; Halevy, Avner; Harris, Tamara B; Hedayati, Mehdi; van Heel, David A; Hirata, Makoto; Höfer, Imo; Hsiung, Chao Agnes; Huang, Jinyan; Hung, Yi-Jen; Ikram, M Arfan; Jagadeesan, Anuradha; Jousilahti, Pekka; Kamatani, Yoichiro; Kanai, Masahiro; Kerrison, Nicola D; Kessler, Thorsten; Khaw, Kay-Tee; Khor, Chiea Chuen; de Kleijn, Dominique P V; Koh, Woon-Puay; Kolcic, Ivana; Kraft, Peter; Krämer, Bernhard K; Kutalik, Zoltán; Kuusisto, Johanna; Langenberg, Claudia; Launer, Lenore J; Lawlor, Deborah A; Lee, I-Te; Lee, Wen-Jane; Lerch, Markus M; Li, Liming; Liu, Jianjun; Loh, Marie; London, Stephanie J; Loomis, Stephanie; Lu, Yingchang; Luan, Jian'an; Mägi, Reedik; Manichaikul, Ani W; Manunta, Paolo; Másson, Gísli; Matoba, Nana; Mei, Xue W; Meisinger, Christa; Meitinger, Thomas; Mezzavilla, Massimo; Milani, Lili; Millwood, Iona Y; Momozawa, Yukihide; Moore, Amy; Morange, Pierre-Emmanuel; Moreno-Macías, Hortensia; Mori, Trevor A; Morrison, Alanna C; Muka, Taulant; Murakami, Yoshinori; Murray, Alison D; de Mutsert, Renée; Mychaleckyj, Josyf C; Nalls, Mike A; Nauck, Matthias; Neville, Matt J; Nolte, Ilja M; Ong, Ken K; Orozco, Lorena; Padmanabhan, Sandosh; Pálsson, Gunnar; Pankow, James S; Pattaro, Cristian; Pattie, Alison; Polasek, Ozren; Poulter, Neil; Pramstaller, Peter P; Quintana-Murci, Lluis; Räikkönen, Katri; Ralhan, Sarju; Rao, Dabeeru C; van Rheenen, Wouter; Rich, Stephen S; Ridker, Paul M; Rietveld, Cornelius A; Robino, Antonietta; van Rooij, Frank J A; Ruggiero, Daniela; Saba, Yasaman; Sabanayagam, Charumathi; Sabater-Lleal, Maria; Sala, Cinzia Felicita; Salomaa, Veikko; Sandow, Kevin; Schmidt, Helena; Scott, Laura J; Scott, William R; Sedaghati-Khayat, Bahareh; Sennblad, Bengt; van Setten, Jessica; Sever, Peter J; Sheu, Wayne H-H; Shi, Yuan; Shrestha, Smeeta; Shukla, Sharvari Rahul; Sigurdsson, Jon K; Sikka, Timo Tonis; Singh, Jai Rup; Smith, Blair H; Stancáková, Alena; Stanton, Alice; Starr, John M; Stefansdottir, Lilja; Straker, Leon; Sulem, Patrick; Sveinbjornsson, Gardar; Swertz, Morris A; Taylor, Adele M; Taylor, Kent D; Terzikhan, Natalie; Tham, Yih-Chung; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tillander, Annika; Tracy, Russell P; Tusié-Luna, Teresa; Tzoulaki, Ioanna; Vaccargiu, Simona; Vangipurapu, Jagadish; Veldink, Jan H; Vitart, Veronique; Völker, Uwe; Vuoksimaa, Eero; Wakil, Salma M; Waldenberger, Melanie; Wander, Gurpreet S; Wang, Ya Xing; Wareham, Nicholas J; Wild, Sarah; Yajnik, Chittaranjan S; Yuan, Jian-Min; Zeng, Lingyao; Zhang, Liang; Zhou, Jie; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Becker, Diane M; Lehne, Benjamin; Bennett, David A; van den Berg, Leonard H; Berndt, Sonja I; Bharadwaj, Dwaipayan; Bielak, Lawrence F; Bochud, Murielle; Boehnke, Mike; Bouchard, Claude; Bradfield, Jonathan P; Brody, Jennifer A; Campbell, Archie; Carmi, Shai; Caulfield, Mark J; Cesarini, David; Chambers, John C; Chandak, Giriraj Ratan; Cheng, Ching-Yu; Ciullo, Marina; Cornelis, Marilyn; Cusi, Daniele; Smith, George Davey; Deary, Ian J; Dorajoo, Rajkumar; van Duijn, Cornelia M; Ellinghaus, David; Erdmann, Jeanette; Eriksson, Johan G; Evangelou, Evangelos; Evans, Michele K; Faul, Jessica D; Feenstra, Bjarke; Feitosa, Mary; Foisy, Sylvain; Franke, Andre; Friedlander, Yechiel; Gasparini, Paolo; Gieger, Christian; Gonzalez, Clicerio; Goyette, Philippe; Grant, Struan F A; Griffiths, Lyn R; Groop, Leif; Gudnason, Vilmundur; Gyllensten, Ulf; Hakonarson, Hakon; Hamsten, Anders; van der Harst, Pim; Heng, Chew-Kiat; Hicks, Andrew A; Hochner, Hagit; Huikuri, Heikki; Hunt, Steven C; Jaddoe, Vincent W V; De Jager, Philip L; Johannesson, Magnus; Johansson, Åsa; Jonas, Jost B; Jukema, J Wouter; Junttila, Juhani; Kaprio, Jaakko; Kardia, Sharon L R; Karpe, Fredrik; Kumari, Meena; Laakso, Markku; van der Laan, Sander W; Lahti, Jari; Laudes, Matthias; Lea, Rodney A; Lieb, Wolfgang; Lumley, Thomas; Martin, Nicholas G; März, Winfried; Matullo, Giuseppe; McCarthy, Mark I; Medland, Sarah E; Merriman, Tony R; Metspalu, Andres; Meyer, Brian F; Mohlke, Karen L; Montgomery, Grant W; Mook-Kanamori, Dennis; Munroe, Patricia B; North, Kari E; Nyholt, Dale R; O'connell, Jeffery R; Ober, Carole; Oldehinkel, Albertine J; Palmas, Walter; Palmer, Colin; Pasterkamp, Gerard G; Patin, Etienne; Pennell, Craig E; Perusse, Louis; Peyser, Patricia A; Pirastu, Mario; Polderman, Tinca J C; Porteous, David J; Posthuma, Danielle; Psaty, Bruce M; Rioux, John D; Rivadeneira, Fernando; Rotimi, Charles; Rotter, Jerome I; Rudan, Igor; Den Ruijter, Hester M; Sanghera, Dharambir K; Sattar, Naveed; Schmidt, Reinhold; Schulze, Matthias B; Schunkert, Heribert; Scott, Robert A; Shuldiner, Alan R; Sim, Xueling; Small, Neil; Smith, Jennifer A; Sotoodehnia, Nona; Tai, E-Shyong; Teumer, Alexander; Timpson, Nicholas J; Toniolo, Daniela; Tregouet, David-Alexandre; Tuomi, Tiinamaija; Vollenweider, Peter; Wang, Carol A; Weir, David R; Whitfield, John B; Wijmenga, Cisca; Wong, Tien-Yin; Wright, John; Yang, Jingyun; Yu, Lei; Zemel, Babette S; Zonderman, Alan B; Perola, Markus; Magnusson, Patrik K E; Uitterlinden, André G; Kooner, Jaspal S; Chasman, Daniel I; Loos, Ruth J F; Franceschini, Nora; Franke, Lude; Haley, Chris S; Hayward, Caroline; Walters, Robin G; Perry, John R B; Esko, Tonu; Helgason, Agnar; Stefansson, Kari; Joshi, Peter K; Kubo, Michiaki; Wilson, James F
  3. Nature communications. 2019, Oct 31; 10(1): 4957.
  1. 6.   Human Leukocyte Antigen Genotype and Risk of HIV Disease Progression before and after Initiation of Antiretroviral Therapy
  2. Kuniholm, M. H.; Gao, X. J.; Xue, X. N.; Kovacs, A.; Anastos, K.; Marti, D.; Greenblatt, R. M.; Cohen, M. H.; Minkoff, H.; Gange, S. J.; Fazzari, M.; Young, M. A.; Strickler, H. D.; Carrington, M.
  3. Journal of Virology. 2011, Oct; 85(20): 10826-10833.
  1. 7.   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. 8.   Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies
  2. Hawes, J. J.; Tuskan, R. G.; Reilly, K. M.
  3. Neurogenetics. 2007, Apr; 8(2): 121-130.
  1. 9.   Functional studies of the chromosome 3p21.3 candidate tumor suppressor gene BLU/ZMYND10 in nasopharyngeal carcinoma
  2. Yau, W. L.; Lung, H. L.; Zabarovsky, E. R.; Lerman, M. I.; Sham, J. S. T.; Chua, D. T. T.; Tsao, S. W.; Stanbridge, E. J.; Lung, M. L.
  3. International Journal of Cancer. 2006, Dec; 119(12): 2821-2826.
  1. 10.   Integrating data on DNA copy number with gene expression levels and drug sensitivities in the NCI-60 cell line panel
  2. Bussey, K. J.; Chin, K.; Lababidi, S.; Reimers, M.; Reinhold, W. C.; Kuo, W. L.; Gwadry, F.; Jain, A.; Kouros-Mehr, H.; Fridly, J.; Jain, A.; Collins, C.; Nishizuka, S.; Tonon, G.; Roschke, A.; Gehlhaus, K.; Kirsch, I.; Scudiero, D. A.; Gray, J. W.; Weinstein, J. N.
  3. Molecular Cancer Therapeutics. 2006, Apr; 5(4): 853-867.
  1. 11.   HLA class I diversity among rural rainforest inhabitants in Cameroon: identification of A*2612-B*4407 haplotype
  2. Torimiro, J. N.; Carr, J. K.; Wolfe, N. D.; Karacki, P.; Martin, M. P.; Gao, X.; Tamoufe, U.; Thomas, A.; Ngole, E. M.; Birx, D. L.; McCutchan, F. E.; Burke, D. S.; Carrington, M.
  3. Tissue Antigens. 2006, JAN; 67(1): 30-37.
  1. 12.   High level of functional polymorphism indicates a unique role of natural selection at human immune system loci
  2. Hughes, A. L.; Packer, B.; Welch, R.; Chanock, S. J.; Yeager, M.
  3. Immunogenetics. 2005, DEC; 57(11): 821-827.
  1. 13.   Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance
  2. Bergen, A. W.; Qi, Y.; Haque, K. A.; Welch, R. A.; Chanock, S. J.
  3. BMC Biotechnology. 2005, SEP 16; 5
  1. 14.   High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
  2. Vocke, C. D.; Yang, Y. F.; Pavlovich, C. P.; Schmidt, L. S.; Nickerson, M. L.; Torres-Cabala, C. A.; Merino, M. J.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. Journal of the National Cancer Institute. 2005, JUN 15; 97(12): 931-935.
  1. 15.   Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects
  2. Reilly, K. M.; Tuskan, R. G.; Christy, E.; Loisel, D. A.; Ledger, J.; Bronson, R. T.; Smith, C. D.; Tsang, S.; Munroe, D. J.; Jacks, T.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004, AUG 31; 101(35): 13008-13013.
  1. 16.   A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
  2. Okimoto, K.; Sakurai, J.; Kobayashi, T.; Mitani, H.; Hirayama, Y.; Nickerson, M. L.; Warren, M. B.; Zbar, B.; Schmidt, L. S.; Hino, O.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004 101(7): 2023-2027.
  1. 17.   Effects of CCR5-Delta 32 and CCR2-64I alleles on disease progression of perinatally HIV-1-infected children: an international meta-analysis
  2. Ioannidis, J. P. A.; Contopoulos-Ioannidis, D. G.; Rosenberg, P. S.; Goedert, J. J.; De Rossi, A.; Espanol, T.; Frenkel, L.; Mayaux, M. J.; Newell, M. L.; Pahwa, S. G.; Rousseau, C.; Scarlatti, G.; Sei, S.; Sen, L.; O'Brien, T. R.
  3. Aids. 2003 17(11): 1631-1638.
  1. 18.   Deletion mapping using quantitative real-time PCR identifies two distinct 3p21.3 regions affected in most cervical carcinomas
  2. Senchenko, V.; Liu, J.; Braga, E.; Mazurenko, N.; Loginov, W.; Seryogin, Y.; Bazov, I.; Protopopov, A.; Kisseljov, F. L.; Kashuba, V.; Lerman, M. I.; Klein, G.; Zabarovsky, E. R.
  3. Oncogene. 2003 22(19): 2984-2992.
  1. 19.   Widespread purifying selection at polymorphic sites in human protein-coding loci
  2. Hughes, A. L.; Packer, B.; Welch, R.; Bergen, A. W.; Chanock, S. J.; Yeager, M.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2003 100(26): 15754-15757.
  1. 20.   Critical tumor-suppressor gene regions on chromosome 3p in major human epithelial malignancies: Allelotyping and quantitative real-time PCR
  2. Braga, E.; Senchenko, V.; Bazov, I.; Loginov, W.; Liu, J.; Ermilova, V.; Kazubskaya, T.; Garkavtseva, R.; Mazurenko, N.; Kisseljov, F.; Lerman, M. I.; Klein, G.; Kisselev, L.; Zabarovsky, E. R.
  3. International Journal of Cancer. 2002 100(5): 534-541.
  1. 21.   Fez1/Lzts1 alterations in gastric carcinoma
  2. Vecchione, A.; Ishii, H.; Shiao, Y. H.; Trapasso, F.; Rugge, M.; Tamburrino, J. F.; Murakumo, Y.; Alder, H.; Croce, C. M.; Baffa, R.
  3. Clinical Cancer Research. 2001 7(6): 1546-1552.
  1. 22.   A C-to-A single nucleotide polymorphism in intron 2 of the human CACNA2D2 gene that maps at 3p21.3
  2. Angeloni, D.; Duh, F. M.; Wei, M. H.; Johnson, B. E.; Lerman, M. I.
  3. Molecular and Cellular Probes. 2001 15(2): 125-127.
  1. 23.   Protective effect of CCR5 Delta 32 heterozygosity is restricted by SDF-1 genotype in children with HIV-1 infection
  2. Sei, S.; Boler, A. M.; Nguyen, G. T.; Stewart, S. K.; Yang, Q. E.; Edgerly, M.; Wood, L. V.; Brouwers, P.; Venzon, D. J.
  3. Aids. 2001 15(11): 1343-1352.
  1. 24.   The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3 is involved in kidney tumorigenesis
  2. Dreijerink, K.; Braga, E.; Kuzmin, I.; Geil, L.; Duh, F. M.; Angeloni, D.; Zbar, B.; Lerman, M. I.; Stanbridge, E. J.; Minna, J. D.; Protopopov, A.; Li, J. F.; Kashuba, V.; Klein, G.; Zabarovsky, E. R.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2001 98(13): 7504-7509.
  1. 25.   A G-to-A single nucleotide polymorphism in the human Alpha 2 Delta 2 calcium channel subunit gene that maps at chromosome 3p21.3
  2. Angeloni, D.; Wei, M. H.; Duh, F. M.; Johnson, B. E.; Lerman, M. I.
  3. Molecular and Cellular Probes. 2000 14(1): 53-54.
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