Loading…
Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
Get full text
Journal Article
Loading…
Common CD36 SNPs reduce protein expression and may contribute to a protective atherogenic profile
Love-Gregory, Latisha, Sherva, Richard, Schappe, Timothy, Qi, Jian-Shen, McCrea, Jennifer, Klein, Samuel, Connelly, Margery A., Abumrad, Nada A.
Published in Human molecular genetics (01.01.2011)
Published in Human molecular genetics (01.01.2011)
Get full text
Journal Article
Loading…
Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
Yang, Tie-Lin, Chen, Xiang-Ding, Guo, Yan, Lei, Shu-Feng, Wang, Jin-Tang, Zhou, Qi, Pan, Feng, Chen, Yuan, Zhang, Zhi-Xin, Dong, Shan-Shan, Xu, Xiang-Hong, Yan, Han, Liu, Xiaogang, Qiu, Chuan, Zhu, Xue-Zhen, Chen, Teng, Li, Meng, Zhang, Hong, Zhang, Liang, Drees, Betty M., Hamilton, James J., Papasian, Christopher J., Recker, Robert R., Song, Xiao-Ping, Cheng, Jing, Deng, Hong-Wen
Published in American journal of human genetics (12.12.2008)
Published in American journal of human genetics (12.12.2008)
Get full text
Journal Article
Loading…
Mother's curse: the effect of mtDNA on individual fitness and population viability
Gemmell, Neil J., Metcalf, Victoria J., Allendorf, Fred W.
Published in Trends in ecology & evolution (Amsterdam) (01.05.2004)
Published in Trends in ecology & evolution (Amsterdam) (01.05.2004)
Get full text
Journal Article
Loading…
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
Kooner, Jaspal S, Chambers, John C, Aguilar-Salinas, Carlos A, Hinds, David A, Hyde, Craig L, Warnes, Gregory R, Gómez Pérez, Francisco J, Frazer, Kelly A, Elliott, Paul, Scott, James, Milos, Patrice M, Cox, David R, Thompson, John F
Published in Nature genetics (01.02.2008)
Published in Nature genetics (01.02.2008)
Get full text
Journal Article
Loading…
Disruption of contactin 4 in three subjects with autism spectrum disorder
Roohi, J, Montagna, C, Tegay, D H, Palmer, L E, DeVincent, C, Pomeroy, J C, Christian, S L, Nowak, N, Hatchwell, E
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
Get full text
Journal Article
Loading…
High mutation rates have driven extensive structural polymorphism among human Y chromosomes
Repping, Sjoerd, van Daalen, Saskia K M, Brown, Laura G, Korver, Cindy M, Lange, Julian, Marszalek, Janet D, Pyntikova, Tatyana, van der Veen, Fulco, Skaletsky, Helen, Page, David C, Rozen, Steve
Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
Get full text
Journal Article
Loading…
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
Mervis, Carolyn B., Dida, Joana, Lam, Emily, Crawford-Zelli, Nicole A., Young, Edwin J., Henderson, Danielle R., Onay, Tuncer, Morris, Colleen A., Woodruff-Borden, Janet, Yeomans, John, Osborne, Lucy R.
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
Get full text
Journal Article
Loading…
Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
Vedrenne, Vanessa, Gowher, Ali, De Lonlay, Pascale, Nitschke, Patrick, Serre, Valérie, Boddaert, Nathalie, Altuzarra, Cecilia, Mager-Heckel, Anne-Marie, Chretien, Florence, Entelis, Nina, Munnich, Arnold, Tarassov, Ivan, Rötig, Agnès
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
Get full text
Journal Article
Loading…
Loading…
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
Taylor, A, Wang, D, Patel, K, Whittall, R, Wood, G, Farrer, M, Neely, RDG, Fairgrieve, S, Nair, D, Barbir, M, Jones, JL, Egan, S, Everdale, R, Lolin, Y, Hughes, E, Cooper, JA, Hadfield, SG, Norbury, G, Humphries, SE
Published in Clinical genetics (01.06.2010)
Published in Clinical genetics (01.06.2010)
Get full text
Journal Article
Loading…
The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl
Takahashi, Meiko, Saenko, Vladimir A., Rogounovitch, Tatiana I., Kawaguchi, Takahisa, Drozd, Valentina M., Takigawa-Imamura, Hisako, Akulevich, Natallia M., Ratanajaraya, Chanavee, Mitsutake, Norisato, Takamura, Noboru, Danilova, Larisa I., Lushchik, Maxim L., Demidchik, Yuri E., Heath, Simon, Yamada, Ryo, Lathrop, Mark, Matsuda, Fumihiko, Yamashita, Shunichi
Published in Human molecular genetics (15.06.2010)
Published in Human molecular genetics (15.06.2010)
Get full text
Journal Article
Loading…
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
Need, Anna C., Attix, Deborah K., McEvoy, Jill M., Cirulli, Elizabeth T., Linney, Kristen L., Hunt, Priscilla, Ge, Dongliang, Heinzen, Erin L., Maia, Jessica M., Shianna, Kevin V., Weale, Michael E., Cherkas, Lynn F., Clement, Gail, Spector, Tim D., Gibson, Greg, Goldstein, David B.
Published in Human molecular genetics (01.12.2009)
Published in Human molecular genetics (01.12.2009)
Get full text
Journal Article
Loading…
A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline
KEENAN, Brendan T, SHULMAN, Joshua M, LEMERE, Cynthia A, MYERS, Amanda J, NICHOLSON-WELLER, Anne, REIMAN, Eric M, EVANS, Denis A, BENNETT, David A, DE JAGER, Philip L, CHIBNIK, Lori B, RAJ, Towfique, TRAN, Dong, SABUNCU, Mert R, ALLEN, April N, CORNEVEAUX, Jason J, HARDY, John A, HUENTELMAN, Matthew J
Published in Human molecular genetics (15.05.2012)
Published in Human molecular genetics (15.05.2012)
Get full text
Journal Article
Loading…
Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese
Cha, Pei-Chieng, Mushiroda, Taisei, Takahashi, Atsushi, Kubo, Michiaki, Minami, Shiro, Kamatani, Naoyuki, Nakamura, Yusuke
Published in Human molecular genetics (01.12.2010)
Published in Human molecular genetics (01.12.2010)
Get full text
Journal Article
Loading…
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
Kiemeney, Lambertus A, Sulem, Patrick, Besenbacher, Soren, Vermeulen, Sita H, Sigurdsson, Asgeir, Thorleifsson, Gudmar, Gudbjartsson, Daniel F, Stacey, Simon N, Gudmundsson, Julius, Zanon, Carlo, Kostic, Jelena, Masson, Gisli, Bjarnason, Hjordis, Palsson, Stefan T, Skarphedinsson, Oskar B, Gudjonsson, Sigurjon A, Witjes, J Alfred, Grotenhuis, Anne J, Verhaegh, Gerald W, Bishop, D Timothy, Sak, Sei Chung, Choudhury, Ananya, Elliott, Faye, Barrett, Jennifer H, Hurst, Carolyn D, de Verdier, Petra J, Ryk, Charlotta, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Vineis, Paolo, Polidoro, Silvia, Guarrera, Simonetta, Sacerdote, Carlotta, Campagna, Marcello, Placidi, Donatella, Arici, Cecilia, Zeegers, Maurice P, Kellen, Eliane, Gutierrez, Berta Saez, Sanz-Velez, José I, Sanchez-Zalabardo, Manuel, Valdivia, Gabriel, Garcia-Prats, Maria D, Hengstler, Jan G, Blaszkewicz, Meinolf, Dietrich, Holger, Ophoff, Roel A, van den Berg, Leonard H, Alexiusdottir, Kristin, Kristjansson, Kristleifur, Geirsson, Gudmundur, Nikulasson, Sigfus, Petursdottir, Vigdis, Kong, Augustine, Thorgeirsson, Thorgeir, Mungan, N Aydin, Lindblom, Annika, van Es, Michael A, Porru, Stefano, Buntinx, Frank, Golka, Klaus, Mayordomo, José I, Kumar, Rajiv, Matullo, Giuseppe, Steineck, Gunnar, Kiltie, Anne E, Aben, Katja K H, Jonsson, Eirikur, Thorsteinsdottir, Unnur, Knowles, Margaret A, Rafnar, Thorunn, Stefansson, Kari
Published in Nature genetics (01.05.2010)
Published in Nature genetics (01.05.2010)
Get full text
Journal Article
Loading…
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
Okada, Ippei, Hamanoue, Haruka, Terada, Koji, Tohma, Takaya, Megarbane, Andre, Chouery, Eliane, Abou-Ghoch, Joelle, Jalkh, Nadine, Cogulu, Ozgur, Ozkinay, Ferda, Horie, Kyoji, Takeda, Junji, Furuichi, Tatsuya, Ikegawa, Shiro, Nishiyama, Kiyomi, Miyatake, Satoko, Nishimura, Akira, Mizuguchi, Takeshi, Niikawa, Norio, Hirahara, Fumiki, Kaname, Tadashi, Yoshiura, Koh-ichiro, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Furukawa, Takahisa, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
Get full text
Journal Article
Loading…
Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups
Xiong, Dong-Hai, Liu, Xiao-Gang, Guo, Yan-Fang, Tan, Li-Jun, Wang, Liang, Sha, Bao-Yong, Tang, Zi-Hui, Pan, Feng, Yang, Tie-Lin, Chen, Xiang-Ding, Lei, Shu-Feng, Yerges, Laura M., Zhu, Xue-Zen, Wheeler, Victor W., Patrick, Alan L., Bunker, ClareAnn H., Guo, Yan, Yan, Han, Pei, Yu-Fang, Zhang, Yin-Pin, Levy, Shawn, Papasian, Christopher J., Xiao, Peng, Lundberg, Y. Wang, Recker, Robert R., Liu, Yao-Zhong, Liu, Yong-Jun, Zmuda, Joseph M., Deng, Hong-Wen
Published in American journal of human genetics (13.03.2009)
Published in American journal of human genetics (13.03.2009)
Get full text
Journal Article
Loading…
Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans
Tao, Hirotaka, Manak, J. Robert, Sowers, Levi, Mei, Xue, Kiyonari, Hiroshi, Abe, Takaya, Dahdaleh, Nader S., Yang, Tian, Wu, Shu, Chen, Shan, Fox, Mark H., Gurnett, Christina, Montine, Thomas, Bird, Thomas, Shaffer, Lisa G., Rosenfeld, Jill A., McConnell, Juliann, Madan-Khetarpal, Suneeta, Berry-Kravis, Elizabeth, Griesbach, Hilary, Saneto, Russell P., Scott, Matthew P., Antic, Dragana, Reed, Jordan, Boland, Riley, Ehaideb, Salleh N., El-Shanti, Hatem, Mahajan, Vinit B., Ferguson, Polly J., Axelrod, Jeffrey D., Lehesjoki, Anna-Elina, Fritzsch, Bernd, Slusarski, Diane C., Wemmie, John, Ueno, Naoto, Bassuk, Alexander G.
Published in American journal of human genetics (11.02.2011)
Published in American journal of human genetics (11.02.2011)
Get full text
Journal Article