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Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Baldan, Federica, Demori, Eliana, Gnan, Chiara, Passon, Nadia, Damante, Giuseppe, Mio, Catia, Allegri, Lorenzo, Morgan, Anna, Girotto, Giorgia, De Paoli, Federica, Limongelli, Ivan, Zucca, Susanna, Faletra, Flavio
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
WANG, Li-Dong, ZHOU, Fu-You, ZHANG, Lian-Qun, YANG, Jie-Zhi, LI, Ji-Lin, LI, Xing-Chuan, REN, Jing-Li, LIU, Zhi-Cai, GAO, Wen-Jun, LING YUAN, WUWEI, ZHANG, Yan-Rui, LI, Xue-Min, WANG, Wei-Peng, SHEYHIDIN, Ilyar, FENG LI, CHEN, Bao-Ping, REN, Shu-Wei, BIN LIU, DAN LI, KU, Jian-Wei, FAN, Zong-Min, ZHOU, Sheng-Li, SUN, Liang-Dan, GUO, Zhi-Gang, ZHAO, Xue-Ke, NA LIU, AI, Yong-Hong, SHEN, Fang-Fang, CUI, Wen-Yan, SHUANG SONG, TAO GUO, JING HUANG, CHAO YUAN, XIN SONG, JIA HUANG, YUE WU, YUE, Wen-Bin, FENG, Chang-Wei, LI, Hong-Lei, YAN WANG, TIAN, Jin-Ya, YUE LU, YI YUAN, ZHU, Wen-Liang, YAN JIN, MIN LIU, FU, Wen-Jing, XIA YANG, WANG, Han-Jing, HAN, Suo-Li, JIE CHEN, MIN HAN, WANG, Hai-Yan, PENG ZHANG, LI, Xiu-Min, LI, Jiang-Man, KONG, Guo-Qiang, HONG QI, JUAN CUI
Published in Nature genetics (01.09.2010)
Published in Nature genetics (01.09.2010)
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Joshi, Ricky S., Garg, Paras, Zaitlen, Noah, Lappalainen, Tuuli, Watson, Corey T., Azam, Nidha, Ho, Daniel, Li, Xin, Antonarakis, Stylianos E., Brunner, Han G., Buiting, Karin, Cheung, Sau Wai, Coffee, Bradford, Eggermann, Thomas, Francis, David, Geraedts, Joep P., Gimelli, Giorgio, Jacobson, Samuel G., Le Caignec, Cedric, de Leeuw, Nicole, Liehr, Thomas, Mackay, Deborah J., Montgomery, Stephen B., Pagnamenta, Alistair T., Papenhausen, Peter, Robinson, David O., Ruivenkamp, Claudia, Schwartz, Charles, Steiner, Bernhard, Stevenson, David A., Surti, Urvashi, Wassink, Thomas, Sharp, Andrew J.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population
Takata, Ryo, Akamatsu, Shusuke, Kubo, Michiaki, Takahashi, Atsushi, Hosono, Naoya, Kawaguchi, Takahisa, Tsunoda, Tatsuhiko, Inazawa, Johji, Kamatani, Naoyuki, Ogawa, Osamu, Fujioka, Tomoaki, Nakamura, Yusuke, Nakagawa, Hidewaki
Published in Nature genetics (01.09.2010)
Published in Nature genetics (01.09.2010)
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Genomewide Association Analysis of Coronary Artery Disease
Samani, Nilesh J, Erdmann, Jeanette, Hall, Alistair S, Hengstenberg, Christian, Mangino, Massimo, Mayer, Bjoern, Dixon, Richard J, Meitinger, Thomas, Braund, Peter, Wichmann, H.-Erich, Barrett, Jennifer H, König, Inke R, Stevens, Suzanne E, Szymczak, Silke, Tregouet, David-Alexandre, Iles, Mark M, Pahlke, Friedrich, Pollard, Helen, Lieb, Wolfgang, Cambien, Francois, Fischer, Marcus, Ouwehand, Willem, Blankenberg, Stefan, Balmforth, Anthony J, Baessler, Andrea, Ball, Stephen G, Strom, Tim M, Brænne, Ingrid, Gieger, Christian, Deloukas, Panos, Tobin, Martin D, Ziegler, Andreas, Thompson, John R, Schunkert, Heribert
Published in The New England journal of medicine (02.08.2007)
Published in The New England journal of medicine (02.08.2007)
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Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
Shahin, Hashem, Walsh, Tom, Rayyan, Amal Abu, Lee, Ming K, Higgins, Jake, Dickel, Diane, Lewis, Kristen, Thompson, James, Baker, Carl, Nord, Alex S, Stray, Sunday, Gurwitz, David, Avraham, Karen B, King, Mary-Claire, Kanaan, Moien
Published in European journal of human genetics : EJHG (01.04.2010)
Published in European journal of human genetics : EJHG (01.04.2010)
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Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study
Fletcher, Olivia, Johnson, Nichola, Orr, Nick, Hosking, Fay J., Gibson, Lorna J., Walker, Kate, Zelenika, Diana, Gut, Ivo, Heath, Simon, Palles, Claire, Coupland, Ben, Broderick, Peter, Schoemaker, Minouk, Jones, Michael, Williamson, Jill, Chilcott-Burns, Sarah, Tomczyk, Katarzyna, Simpson, Gemma, Jacobs, Kevin B., Chanock, Stephen J., Hunter, David J., Tomlinson, Ian P., Swerdlow, Anthony, Ashworth, Alan, Ross, Gillian, dos Santos Silva, Isabel, Lathrop, Mark, Houlston, Richard S., Peto, Julian
Published in JNCI : Journal of the National Cancer Institute (02.03.2011)
Published in JNCI : Journal of the National Cancer Institute (02.03.2011)
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Genome-Wide Association Study in East Asians Identifies Novel Susceptibility Loci for Breast Cancer
Long, Jirong, Cai, Qiuyin, Sung, Hyuna, Shi, Jiajun, Zhang, Ben, Choi, Ji-Yeob, Wen, Wanqing, Delahanty, Ryan J., Lu, Wei, Gao, Yu-Tang, Shen, Hongbing, Park, Sue K., Chen, Kexin, Shen, Chen-Yang, Ren, Zefang, Haiman, Christopher A., Matsuo, Keitaro, Kim, Mi Kyung, Khoo, Ui Soon, Iwasaki, Motoki, Zheng, Ying, Xiang, Yong-Bing, Gu, Kai, Rothman, Nathaniel, Wang, Wenjing, Hu, Zhibin, Liu, Yao, Yoo, Keun-Young, Noh, Dong-Young, Han, Bok-Ghee, Lee, Min Hyuk, Zheng, Hong, Zhang, Lina, Wu, Pei-Ei, Shieh, Ya-Lan, Chan, Sum Yin, Wang, Shenming, Xie, Xiaoming, Kim, Sung-Won, Henderson, Brian E., Le Marchand, Loic, Ito, Hidemi, Kasuga, Yoshio, Ahn, Sei-Hyun, Kang, Han Sung, Chan, Kelvin Y. K., Iwata, Hiroji, Tsugane, Shoichiro, Li, Chun, Shu, Xiao-Ou, Kang, Dae-Hee, Zheng, Wei
Published in PLoS genetics (01.02.2012)
Published in PLoS genetics (01.02.2012)
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Novel Susceptibility Variants at 10p12.31-12.2 for Childhood Acute Lymphoblastic Leukemia in Ethnically Diverse Populations
Xu, Heng, Yang, Wenjian, Perez-Andreu, Virginia, Devidas, Meenakshi, Fan, Yiping, Cheng, Cheng, Pei, Deqing, Scheet, Paul, Burchard, Esteban González, Eng, Celeste, Huntsman, Scott, Torgerson, Dara G., Dean, Michael, Winick, Naomi J., Martin, Paul L., Camitta, Bruce M., Bowman, W. Paul, Willman, Cheryl L., Carroll, William L., Mullighan, Charles G., Bhojwani, Deepa, Hunger, Stephen P., Pui, Ching-Hon, Evans, William E., Relling, Mary V., Loh, Mignon L., Yang, Jun J.
Published in JNCI : Journal of the National Cancer Institute (15.05.2013)
Published in JNCI : Journal of the National Cancer Institute (15.05.2013)
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P., Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D.A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A.S., Gothelf, Doron, Zackai, Elaine, Agopian, A.J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21
Zhang, Mingfeng, Wang, Zhaoming, Obazee, Ofure, Jia, Jinping, Childs, Erica J., Hoskins, Jason, Figlioli, Gisella, Mocci, Evelina, Collins, Irene, Chung, Charles C., Hautman, Christopher, Arslan, Alan A., Beane-Freeman, Laura, Bracci, Paige M., Buring, Julie, Duell, Eric J., Gallinger, Steven, Giles, Graham G., Goodman, Gary E., Goodman, Phyllis J., Kamineni, Aruna, Kolonel, Laurence N., Kulke, Matthew H., Malats, Núria, Olson, Sara H., Sesso, Howard D., Visvanathan, Kala, White, Emily, Zheng, Wei, Abnet, Christian C., Albanes, Demetrius, Andreotti, Gabriella, Brais, Lauren, Bueno-de-Mesquita, H. Bas, Basso, Daniela, Berndt, Sonja I., Boutron-Ruault, Marie-Christine, Bijlsma, Maarten F., Brenner, Hermann, Burdette, Laurie, Campa, Daniele, Caporaso, Neil E., Capurso, Gabriele, Cavestro, Giulia Martina, Cotterchio, Michelle, Costello, Eithne, Elena, Joanne, Boggi, Ugo, Gaziano, J. Michael, Gazouli, Maria, Giovannucci, Edward L., Goggins, Michael, Gross, Myron, Haiman, Christopher A., Hassan, Manal, Helzlsouer, Kathy J., Hu, Nan, Hunter, David J., Iskierka-Jazdzewska, Elzbieta, Jenab, Mazda, Kaaks, Rudolf, Key, Timothy J., Khaw, Kay-Tee, Klein, Eric A., Kogevinas, Manolis, Krogh, Vittorio, Kupcinskas, Juozas, Kurtz, Robert C., Landi, Maria T., Landi, Stefano, Le Marchand, Loic, Mambrini, Andrea, Mannisto, Satu, Milne, Roger L., Neale, Rachel E., Oberg, Ann L., Panico, Salvatore, Patel, Alpa V., Peeters, Petra H. M., Peters, Ulrike, Pezzilli, Raffaele, Porta, Miquel, Purdue, Mark, Quiros, J. Ramón, Riboli, Elio, Rothman, Nathaniel, Scarpa, Aldo, Scelo, Ghislaine, Shu, Xiao-Ou, Silverman, Debra T., Soucek, Pavel, Strobel, Oliver, Sund, Malin, Małecka-Panas, Ewa, Taylor, Philip R., Tavano, Francesca, Travis, Ruth C., Thornquist, Mark, Tjønneland, Anne, Tobias, Geoffrey S.
Published in Oncotarget (11.10.2016)
Published in Oncotarget (11.10.2016)
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Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, Rainald, Marshall, Christian R., Sutcliffe, James S., Skaug, Jennifer, Pinto, Dalila, Vincent, John, Zwaigenbaum, Lonnie, Fernandez, Bridget, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Assembly of 43 human Y chromosomes reveals extensive complexity and variation
Hallast, Pille, Ebert, Peter, Loftus, Mark, Yilmaz, Feyza, Audano, Peter A., Logsdon, Glennis A., Bonder, Marc Jan, Zhou, Weichen, Höps, Wolfram, Kim, Kwondo, Li, Chong, Hoyt, Savannah J., Dishuck, Philip C., Porubsky, David, Tsetsos, Fotios, Kwon, Jee Young, Zhu, Qihui, Munson, Katherine M., Hasenfeld, Patrick, Harvey, William T., Lewis, Alexandra P., Kordosky, Jennifer, Hoekzema, Kendra, O’Neill, Rachel J., Korbel, Jan O., Tyler-Smith, Chris, Eichler, Evan E., Shi, Xinghua, Beck, Christine R., Marschall, Tobias, Konkel, Miriam K., Lee, Charles
Published in Nature (London) (14.09.2023)
Published in Nature (London) (14.09.2023)
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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype
Stanaway, Ian B., Hall, Taryn O., Rosenthal, Elisabeth A., Palmer, Melody, Naranbhai, Vivek, Knevel, Rachel, Namjou‐Khales, Bahram, Carroll, Robert J., Kiryluk, Krzysztof, Gordon, Adam S., Linder, Jodell, Howell, Kayla Marie, Mapes, Brandy M., Lin, Frederick T.J., Joo, Yoonjung Yoonie, Hayes, M. Geoffrey, Gharavi, Ali G., Pendergrass, Sarah A., Ritchie, Marylyn D., Andrade, Mariza, Croteau‐Chonka, Damien C., Raychaudhuri, Soumya, Weiss, Scott T., Lebo, Matt, Amr, Sami S., Carrell, David, Larson, Eric B., Chute, Christopher G., Rasmussen‐Torvik, Laura Jarmila, Roy‐Puckelwartz, Megan J., Sleiman, Patrick, Hakonarson, Hakon, Li, Rongling, Karlson, Elizabeth W., Peterson, Josh F., Kullo, Iftikhar J., Chisholm, Rex, Denny, Joshua Charles, Jarvik, Gail P., Crosslin, David R.
Published in Genetic epidemiology (01.02.2019)
Published in Genetic epidemiology (01.02.2019)
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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, Hreinn, Meyer-Lindenberg, Andreas, Steinberg, Stacy, Magnusdottir, Brynja, Morgen, Katrin, Arnarsdottir, Sunna, Bjornsdottir, Gyda, Walters, G. Bragi, Jonsdottir, Gudrun A., Doyle, Orla M., Tost, Heike, Grimm, Oliver, Kristjansdottir, Solveig, Snorrason, Heimir, Davidsdottir, Solveig R., Gudmundsson, Larus J., Jonsson, Gudbjorn F., Stefansdottir, Berglind, Helgadottir, Isafold, Haraldsson, Magnus, Jonsdottir, Birna, Thygesen, Johan H., Schwarz, Adam J., Didriksen, Michael, Stensbøl, Tine B., Brammer, Michael, Kapur, Shitij, Halldorsson, Jonas G., Hreidarsson, Stefan, Saemundsen, Evald, Sigurdsson, Engilbert, Stefansson, Kari
Published in Nature (London) (16.01.2014)
Published in Nature (London) (16.01.2014)
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The DNA sequence of the human X chromosome
Coffey, Alison J., McLay, Kirsten, Howell, Gareth R., Bird, Christine P., Frankish, Adam, Fulton, Robert S., Sudbrak, Ralf, Andrews, T. Daniel, Searle, Stephen, Whittaker, Adam, Carter, Nigel P., Hodgson, Anne, Richards, Stephen, Steffen, David, Sodergren, Erica, Ainscough, Rachael, Barker, Gary E., Beasley, Helen, Blechschmidt, Karin, Brown, Andrew J., Brown, Mary J., Bonnin, David, Buhay, Christian, Burch, Paula, Burgess, Joanne, Carrel, Laura, Chako, Joseph, Chavez, Dean, Chen, Ellson, Chen, Yuan, Chinault, Craig, Ciccodicola, Alfredo, Conquer, Jen S., David, Robert, Davis, John, DeShazo, Denise, Dhami, Pawandeep, Dugan-Rocha, Shannon, Dunn, Matthew, Ellwood, Matthew, Faulkner, Louisa, Francis, Fiona, Hamilton, Cerissa, Hoffs, Michael, Huckle, Elizabeth J., de Jong, Pieter J., Joseph, Shirin S., Keenan, Stephen, Khan, Ziad, Laird, Gavin K., Lewis, Lora, Liu, Wen, Lozado, Ryan, McDowall, Jennifer, McMurray, Amanda, Mistry, Shailesh L., Morgan, Margaret, Morris, Sidney, Müller, Ines, Mullikin, James C., Nyakatura, Gerald, O'Dell, Christopher N., Palmer, Sophie, Pandian, Richard, Parker, David, Parrish, Julia, Pasternak, Shiran, Pearce, Alex V., Pearson, Danita M., Perez, Lesette, Porter, Keith M., Schlessinger, David, Shen, Hua, Sheridan, Elizabeth M., Skuce, Carl D., Sotheran, Elizabeth C., Swann, R. Mark, Swarbreck, David, Tabor, Paul E., Taylor, Tineace, Teague, Brian, Trevanion, Steve, Tromans, Anthony C., d'Urso, Michele, Villasana, Donna, Wall, Melanie, Warren, James, Williams, Leanne, Woodmansey, Rebecca L., Yen, Jennifer, Poustka, Annemarie, Rosenthal, André, Minx, Patrick J., Willard, Huntington F., Wilson, Richard K., Vaudin, Mark, Coulson, Alan, Durbin, Richard, Hubbard, Tim, Bentley, David R.
Published in Nature (London) (17.03.2005)
Published in Nature (London) (17.03.2005)
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Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA
Low, Siew-Kee, Takahashi, Atsushi, Cha, Pei-Chieng, Zembutsu, Hitoshi, Kamatani, Naoyuki, Kubo, Michiaki, Nakamura, Yusuke
Published in Human molecular genetics (01.05.2012)
Published in Human molecular genetics (01.05.2012)
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Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
Norton, Mary E., Brar, Herb, Weiss, Jonathan, Karimi, Ardeshir, Laurent, Louise C., Caughey, Aaron B., Rodriguez, M. Hellen, Williams, John, Mitchell, Michael E., Adair, Charles D., Lee, Hanmin, Jacobsson, Bo, Tomlinson, Mark W., Oepkes, Dick, Hollemon, Desiree, Sparks, Andrew B., Oliphant, Arnold, Song, Ken
Published in American journal of obstetrics and gynecology (01.08.2012)
Published in American journal of obstetrics and gynecology (01.08.2012)
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Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry
Demirci, F. Yesim, Wang, Xingbin, Kelly, Jennifer A., Morris, David L., Barmada, M. Michael, Feingold, Eleanor, Kao, Amy H., Sivils, Kathy L., Bernatsky, Sasha, Pineau, Christian, Clarke, Ann E., Ramsey‐Goldman, Rosalind, Vyse, Timothy J., Gaffney, Patrick M., Manzi, Susan, Kamboh, M. Ilyas
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.01.2016)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.01.2016)
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