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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
Mohapatra, Bhagyalaxmi, Casey, Brett, Li, Hua, Ho-Dawson, Trang, Smith, Liana, Fernbach, Susan D., Molinari, Laura, Niesh, Stephen R., Jefferies, John Lynn, Craigen, William J., Towbin, Jeffrey A., Belmont, John W., Ware, Stephanie M.
Published in Human molecular genetics (01.03.2009)
Published in Human molecular genetics (01.03.2009)
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Gene expression profiling in the adult Down syndrome brain
Lockstone, H.E., Harris, L.W., Swatton, J.E., Wayland, M.T., Holland, A.J., Bahn, S.
Published in Genomics (San Diego, Calif.) (01.12.2007)
Published in Genomics (San Diego, Calif.) (01.12.2007)
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Impact of the DISC1 Ser704Cys polymorphism on risk for major depression, brain morphology and ERK signaling
Hashimoto, Ryota, Numakawa, Tadahiro, Ohnishi, Takashi, Kumamaru, Emi, Yagasaki, Yuki, Ishimoto, Tetsuya, Mori, Takeyuki, Nemoto, Kiyotaka, Adachi, Naoki, Izumi, Aiko, Chiba, Sachie, Noguchi, Hiroko, Suzuki, Tatsuyo, Iwata, Nakao, Ozaki, Norio, Taguchi, Takahisa, Kamiya, Atsushi, Kosuga, Asako, Tatsumi, Masahiko, Kamijima, Kunitoshi, Weinberger, Daniel R., Sawa, Akira, Kunugi, Hiroshi
Published in Human molecular genetics (15.10.2006)
Published in Human molecular genetics (15.10.2006)
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A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans
Zhu, Qianqian, Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Petrovski, Slave, Dickson, Samuel P., Heinzen, Erin L., Shianna, Kevin V., Goldstein, David B.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
Tarpey, Patrick S., Raymond, F. Lucy, O’Meara, Sarah, Edkins, Sarah, Teague, Jon, Butler, Adam, Dicks, Ed, Stevens, Claire, Tofts, Calli, Avis, Tim, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Jenkinson, Andrew, Jones, David, Menzies, Andrew, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, West, Sofie, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Holder, Susan, Smithson, Sarah F., Hurst, Jane A., Clayton-Smith, Jill, Kerr, Bronwyn, Boyle, Jackie, Shaw, Marie, Vandeleur, Lucianne, Rodriguez, Jayson, Slaugh, Rachel, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Srivastava, Anand K., Stevenson, Roger E., Schwartz, Charles E., Turner, Gillian, Gecz, Jozef, Futreal, P. Andrew, Stratton, Michael R., Partington, Michael
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Phenotypic manifestations of copy number variation in chromosome 16p13.11
Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth, Malphrus, Amy D, Eng, Patricia A, Hixson, Patricia M, Kang, Sung-Hae L, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai
Published in European journal of human genetics : EJHG (01.03.2011)
Published in European journal of human genetics : EJHG (01.03.2011)
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Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
Sreenath Nagamani, S C, Zhang, F, Shchelochkov, O A, Bi, W, Ou, Z, Scaglia, F, Probst, F J, Shinawi, M, Eng, C, Hunter, J V, Sparagana, S, Lagoe, E, Fong, C-T, Pearson, M, Doco-Fenzy, M, Landais, E, Mozelle, M, Chinault, A C, Patel, A, Bacino, C A, Sahoo, T, Kang, S H, Cheung, S W, Lupski, J R, Stankiewicz, P
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
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Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
McGrath, John A., Stone, Kristina L., Begum, Rumena, Simpson, Michael A., Dopping-Hepenstal, Patricia J., Liu, Lu, McMillan, James R., South, Andrew P., Pourreyron, Celine, McLean, W.H. Irwin, Martinez, Anna E., Mellerio, Jemima E., Parsons, Maddy
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Linkage disequilibrium in the human genome
Reich, David E., Cargill, Michele, Bolk, Stacey, Ireland, James, Sabeti, Pardis C., Richter, Daniel J., Lavery, Thomas, Kouyoumjian, Rose, Farhadian, Shelli F., Ward, Ryk, Lander, Eric S.
Published in Nature (London) (10.05.2001)
Published in Nature (London) (10.05.2001)
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Harnessing genomics and genome biology to understand malaria biology
Volkman, Sarah K., Neafsey, Daniel E., Schaffner, Stephen F., Park, Daniel J., Wirth, Dyann F.
Published in Nature reviews. Genetics (01.05.2012)
Published in Nature reviews. Genetics (01.05.2012)
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Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study
Assimes, Themistocles L., Knowles, Joshua W., Basu, Analabha, Iribarren, Carlos, Southwick, Audrey, Tang, Hua, Absher, Devin, Li, Jun, Fair, Joan M., Rubin, Geoffrey D., Sidney, Stephen, Fortmann, Stephen P., Go, Alan S., Hlatky, Mark A., Myers, Richard M., Risch, Neil, Quertermous, Thomas
Published in Human molecular genetics (01.08.2008)
Published in Human molecular genetics (01.08.2008)
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A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation
Duffy, David L., Montgomery, Grant W., Chen, Wei, Zhao, Zhen Zhen, Le, Lien, James, Michael R., Hayward, Nicholas K., Martin, Nicholas G., Sturm, Richard A.
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
Janer, Alexandre, Antonicka, Hana, Lalonde, Emilie, Nishimura, Tamiko, Sasarman, Florin, Brown, Garry K., Brown, Ruth M., Majewski, Jacek, Shoubridge, Eric A.
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes
Murphy, Amy, Chu, Jen-Hwa, Xu, Mousheng, Carey, Vincent J., Lazarus, Ross, Liu, Andy, Szefler, Stanley J., Strunk, Robert, DeMuth, Karen, Castro, Mario, Hansel, Nadia N., Diette, Gregory B., Vonakis, Becky M., Franklin Adkinson, N., Klanderman, Barbara J., Senter-Sylvia, Jody, Ziniti, John, Lange, Christoph, Pastinen, Tomi, Raby, Benjamin A.
Published in Human molecular genetics (01.12.2010)
Published in Human molecular genetics (01.12.2010)
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Expression profiling in primates reveals a rapid evolution of human transcription factors
Gilad, Yoav, Oshlack, Alicia, Smyth, Gordon K., Speed, Terence P., White, Kevin P.
Published in Nature (09.03.2006)
Published in Nature (09.03.2006)
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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
Kim, Hyung-Goo, Kim, Hyun-Taek, Leach, Natalia T., Lan, Fei, Ullmann, Reinhard, Silahtaroglu, Asli, Kurth, Ingo, Nowka, Anja, Seong, Ihn Sik, Shen, Yiping, Talkowski, Michael E., Ruderfer, Douglas, Lee, Ji-Hyun, Glotzbach, Caron, Ha, Kyungsoo, Kjaergaard, Susanne, Levin, Alex V., Romeike, Bernd F., Kleefstra, Tjitske, Bartsch, Oliver, Elsea, Sarah H., Jabs, Ethylin Wang, MacDonald, Marcy E., Harris, David J., Quade, Bradley J., Ropers, Hans-Hilger, Shaffer, Lisa G., Kutsche, Kerstin, Layman, Lawrence C., Tommerup, Niels, Kalscheuer, Vera M., Shi, Yang, Morton, Cynthia C., Kim, Cheol-Hee, Gusella, James F.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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