Loading…
Integrative genomics identifies LMO1 as a neuroblastoma oncogene
Wang, Kai, Diskin, Sharon J., Zhang, Haitao, Attiyeh, Edward F., Winter, Cynthia, Hou, Cuiping, Schnepp, Robert W., Diamond, Maura, Bosse, Kristopher, Mayes, Patrick A., Glessner, Joseph, Kim, Cecilia, Frackelton, Edward, Garris, Maria, Wang, Qun, Glaberson, Wendy, Chiavacci, Rosetta, Le Nguyen, Jagannathan, Jayanti, Saeki, Norihisa, Sasaki, Hiroki, Grant, Struan F. A., Iolascon, Achille, Mosse, Yael P., Cole, Kristina A., Li, Hongzhe, Devoto, Marcella, McGrady, Patrick W., London, Wendy B., Capasso, Mario, Rahman, Nazneen, Hakonarson, Hakon, Maris, John M.
Published in Nature (London) (13.01.2011)
Published in Nature (London) (13.01.2011)
Get full text
Journal Article
Loading…
Recent and ongoing selection in the human genome
Nielsen, Rasmus, Hellmann, Ines, Hubisz, Melissa, Bustamante, Carlos, Clark, Andrew G.
Published in Nature reviews. Genetics (01.11.2007)
Published in Nature reviews. Genetics (01.11.2007)
Get full text
Journal Article
Loading…
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
Fingert, John H., Robin, Alan L., Stone, Jennifer L., Roos, Ben R., Davis, Lea K., Scheetz, Todd E., Bennett, Steve R., Wassink, Thomas H., Kwon, Young H., Alward, Wallace L.M., Mullins, Robert F., Sheffield, Val C., Stone, Edwin M.
Published in Human molecular genetics (15.06.2011)
Published in Human molecular genetics (15.06.2011)
Get full text
Journal Article
Loading…
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
Carvalho, Claudia M B, Ramocki, Melissa B, Pehlivan, Davut, Franco, Luis M, Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie H, Friehling, Linda, Lee, Sansan, Smith, Rosemarie, del Gaudio, Daniela, Withers, Marjorie, Liu, Pengfei, Cheung, Sau Wai, Belmont, John W, Zoghbi, Huda Y, Hastings, P J, Lupski, James R
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
Get full text
Journal Article
Loading…
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Loading…
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A, Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C, Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B, Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo, Gelb, Bruce D, Tartaglia, Marco
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
Get full text
Journal Article
Loading…
High-resolution mapping of meiotic crossovers and non-crossovers in yeast
Mancera, Eugenio, Bourgon, Richard, Brozzi, Alessandro, Huber, Wolfgang, Steinmetz, Lars M
Published in Nature (24.07.2008)
Published in Nature (24.07.2008)
Get full text
Journal Article
Loading…
Loading…
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
Kobayashi, Hatasu, Abe, Koji, Matsuura, Tohru, Ikeda, Yoshio, Hitomi, Toshiaki, Akechi, Yuji, Habu, Toshiyuki, Liu, Wanyang, Okuda, Hiroko, Koizumi, Akio
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
Get full text
Journal Article
Loading…
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
Adrianto, Indra, Wen, Feng, Templeton, Amanda, Wiley, Graham, King, Jarrod B, Lessard, Christopher J, Bates, Jared S, Hu, Yanqing, Kelly, Jennifer A, Kaufman, Kenneth M, Guthridge, Joel M, Alarcón-Riquelme, Marta E, Anaya, Juan-Manuel, Bae, Sang-Cheol, Bang, So-Young, Boackle, Susan A, Brown, Elizabeth E, Petri, Michelle A, Gallant, Caroline, Ramsey-Goldman, Rosalind, Reveille, John D, Vila, Luis M, Criswell, Lindsey A, Edberg, Jeffrey C, Freedman, Barry I, Gregersen, Peter K, Gilkeson, Gary S, Jacob, Chaim O, James, Judith A, Kamen, Diane L, Kimberly, Robert P, Martin, Javier, Merrill, Joan T, Niewold, Timothy B, Park, So-Yeon, Pons-Estel, Bernardo A, Scofield, R Hal, Stevens, Anne M, Tsao, Betty P, Vyse, Timothy J, Langefeld, Carl D, Harley, John B, Moser, Kathy L, Webb, Carol F, Humphrey, Mary Beth, Montgomery, Courtney Gray, Gaffney, Patrick M
Published in Nature genetics (01.03.2011)
Published in Nature genetics (01.03.2011)
Get full text
Journal Article
Loading…
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility
Kochi, Yuta, Okada, Yukinori, Suzuki, Akari, Ikari, Katsunori, Terao, Chikashi, Takahashi, Atsushi, Yamazaki, Keiko, Hosono, Naoya, Myouzen, Keiko, Tsunoda, Tatsuhiko, Kamatani, Naoyuki, Furuichi, Tatsuya, Ikegawa, Shiro, Ohmura, Koichiro, Mimori, Tsuneyo, Matsuda, Fumihiko, Iwamoto, Takuji, Momohara, Shigeki, Yamanaka, Hisashi, Yamada, Ryo, Kubo, Michiaki, Nakamura, Yusuke, Yamamoto, Kazuhiko
Published in Nature genetics (01.06.2010)
Published in Nature genetics (01.06.2010)
Get full text
Journal Article
Loading…
A comparative analysis of the evolution of imperfect mimicry
Penney, Heather D., Hassall, Christopher, Skevington, Jeffrey H., Abbott, Kevin R., Sherratt, Thomas N.
Published in Nature (London) (22.03.2012)
Published in Nature (London) (22.03.2012)
Get full text
Journal Article
Loading…
Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
Get full text
Journal Article
Loading…
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
van Es, Michael A, Veldink, Jan H, Saris, Christiaan G J, Blauw, Hylke M, van Vught, Paul W J, Birve, Anna, Lemmens, Robin, Schelhaas, Helenius J, Groen, Ewout J N, Huisman, Mark H B, van der Kooi, Anneke J, de Visser, Marianne, Dahlberg, Caroline, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Zwarts, Machiel J, van Doormaal, Perry T C, Rujescu, Dan, Strengman, Eric, Giegling, Ina, Muglia, Pierandrea, Tomik, Barbara, Slowik, Agnieszka, Uitterlinden, Andre G, Hendrich, Corinna, Waibel, Stefan, Meyer, Thomas, Ludolph, Albert C, Glass, Jonathan D, Purcell, Shaun, Cichon, Sven, Nöthen, Markus M, Wichmann, H-Erich, Schreiber, Stefan, Vermeulen, Sita H H M, Kiemeney, Lambertus A, Wokke, John H J, Cronin, Simon, McLaughlin, Russell L, Hardiman, Orla, Fumoto, Katsumi, Pasterkamp, R Jeroen, Meininger, Vincent, Melki, Judith, Leigh, P Nigel, Shaw, Christopher E, Landers, John E, Al-Chalabi, Ammar, Brown, Robert H, Robberecht, Wim, Andersen, Peter M, Ophoff, Roel A, van den Berg, Leonard H
Published in Nature genetics (01.10.2009)
Published in Nature genetics (01.10.2009)
Get full text
Journal Article
Loading…
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
Cheung, Aaron Y.L., Horvath, Lindsay M., Grafodatskaya, Daria, Pasceri, Peter, Weksberg, Rosanna, Hotta, Akitsu, Carrel, Laura, Ellis, James
Published in Human molecular genetics (01.06.2011)
Published in Human molecular genetics (01.06.2011)
Get full text
Journal Article
Loading…
The genetic contribution to non-syndromic human obesity
Walley, Andrew J., Asher, Julian E., Froguel, Philippe
Published in Nature reviews. Genetics (01.07.2009)
Published in Nature reviews. Genetics (01.07.2009)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
Loading…
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
Berry-Kravis, E, Hessl, D, Coffey, S, Hervey, C, Schneider, A, Yuhas, J, Hutchison, J, Snape, M, Tranfaglia, M, Nguyen, D V, Hagerman, R
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
Get full text
Journal Article
Loading…
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article