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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
Pansuriya, Twinkal C, van Eijk, Ronald, d'Adamo, Pio, van Ruler, Maayke A J H, Kuijjer, Marieke L, Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G, Verbeke, Sofie L J, Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H, Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M, Vikkula, Miikka, Kurek, Kyle C, Szuhai, Karoly, French, Pim J, Bovée, Judith V M G
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Interplay between gene expression noise and regulatory network architecture
Chalancon, Guilhem, Ravarani, Charles N.J., Balaji, S., Martinez-Arias, Alfonso, Aravind, L., Jothi, Raja, Babu, M. Madan
Published in Trends in genetics (01.05.2012)
Published in Trends in genetics (01.05.2012)
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Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
Thorleifsson, Gudmar, Walters, G Bragi, Gudbjartsson, Daniel F, Steinthorsdottir, Valgerdur, Sulem, Patrick, Helgadottir, Anna, Styrkarsdottir, Unnur, Gretarsdottir, Solveig, Thorlacius, Steinunn, Jonsdottir, Ingileif, Jonsdottir, Thorbjorg, Olafsdottir, Elinborg J, Olafsdottir, Gudridur H, Jonsson, Thorvaldur, Jonsson, Frosti, Borch-Johnsen, Knut, Hansen, Torben, Andersen, Gitte, Jorgensen, Torben, Lauritzen, Torsten, Aben, Katja K, Verbeek, André LM, Roeleveld, Nel, Kampman, Ellen, Yanek, Lisa R, Becker, Lewis C, Tryggvadottir, Laufey, Rafnar, Thorunn, Becker, Diane M, Gulcher, Jeffrey, Kiemeney, Lambertus A, Pedersen, Oluf, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature genetics (01.01.2009)
Published in Nature genetics (01.01.2009)
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Genome-wide association identifies multiple ulcerative colitis susceptibility loci
McGovern, Dermot P B, Gardet, Agnès, Törkvist, Leif, Goyette, Philippe, Essers, Jonah, Taylor, Kent D, Neale, Benjamin M, Ong, Rick T H, Lagacé, Caroline, Li, Chun, Green, Todd, Stevens, Christine R, Beauchamp, Claudine, Fleshner, Phillip R, Carlson, Marie, D'Amato, Mauro, Halfvarson, Jonas, Hibberd, Martin L, Lördal, Mikael, Padyukov, Leonid, Andriulli, Angelo, Colombo, Elisabetta, Latiano, Anna, Palmieri, Orazio, Bernard, Edmond-Jean, Deslandres, Colette, Hommes, Daan W, de Jong, Dirk J, Stokkers, Pieter C, Weersma, Rinse K, Sharma, Yashoda, Silverberg, Mark S, Cho, Judy H, Wu, Jing, Roeder, Kathryn, Brant, Steven R, Schumm, L Phillip, Duerr, Richard H, Dubinsky, Marla C, Glazer, Nicole L, Haritunians, Talin, Ippoliti, Andy, Melmed, Gil Y, Siscovick, David S, Vasiliauskas, Eric A, Targan, Stephan R, Annese, Vito, Wijmenga, Cisca, Pettersson, Sven, Rotter, Jerome I, Xavier, Ramnik J, Daly, Mark J, Rioux, John D, Seielstad, Mark
Published in Nature genetics (01.04.2010)
Published in Nature genetics (01.04.2010)
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Bioturbation: a fresh look at Darwin's last idea
Meysman, Filip J.R., Middelburg, Jack J., Heip, Carlo H.R.
Published in Trends in ecology & evolution (Amsterdam) (01.12.2006)
Published in Trends in ecology & evolution (Amsterdam) (01.12.2006)
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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
Tan, Min-Han, Mester, Jessica, Peterson, Charissa, Yang, Yiran, Chen, Jin-Lian, Rybicki, Lisa A., Milas, Kresimira, Pederson, Holly, Remzi, Berna, Orloff, Mohammed S., Eng, Charis
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma
Abnet, Christian C, Freedman, Neal D, Hu, Nan, Wang, Zhaoming, Yu, Kai, Shu, Xiao-Ou, Yuan, Jian-Min, Zheng, Wei, Dawsey, Sanford M, Dong, Linda M, Lee, Maxwell P, Ding, Ti, Qiao, You-Lin, Gao, Yu-Tang, Koh, Woon-Puay, Xiang, Yong-Bing, Tang, Ze-Zhong, Fan, Jin-Hu, Wang, Chaoyu, Wheeler, William, Gail, Mitchell H, Yeager, Meredith, Yuenger, Jeff, Hutchinson, Amy, Jacobs, Kevin B, Giffen, Carol A, Burdett, Laurie, Fraumeni, Joseph F, Tucker, Margaret A, Chow, Wong-Ho, Goldstein, Alisa M, Chanock, Stephen J, Taylor, Philip R
Published in Nature genetics (01.09.2010)
Published in Nature genetics (01.09.2010)
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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Johnston, Jennifer J., Rubinstein, Wendy S., Facio, Flavia M., Ng, David, Singh, Larry N., Teer, Jamie K., Mullikin, James C., Biesecker, Leslie G.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Inferring Genetic Ancestry: Opportunities, Challenges, and Implications
Royal, Charmaine D., Novembre, John, Fullerton, Stephanie M., Goldstein, David B., Long, Jeffrey C., Bamshad, Michael J., Clark, Andrew G.
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
Amary, M Fernanda, Damato, Stephen, Halai, Dina, Eskandarpour, Malihe, Berisha, Fitim, Bonar, Fiona, McCarthy, Stan, Fantin, Valeria R, Straley, Kimberly S, Lobo, Samira, Aston, Will, Green, Claire L, Gale, Rosemary E, Tirabosco, Roberto, Futreal, Andrew, Campbell, Peter, Presneau, Nadège, Flanagan, Adrienne M
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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The genome of the extremophile crucifer Thellungiella parvula
Dassanayake, Maheshi, Oh, Dong-Ha, Haas, Jeffrey S, Hernandez, Alvaro, Hong, Hyewon, Ali, Shahjahan, Yun, Dae-Jin, Bressan, Ray A, Zhu, Jian-Kang, Bohnert, Hans J, Cheeseman, John M
Published in Nature genetics (01.09.2011)
Published in Nature genetics (01.09.2011)
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Darwinian Evolution of Prions in Cell Culture
Li, Jiali, Browning, Shawn, Mahal, Sukhvir P, Oelschlegel, Anja M, Weissmann, Charles
Published in Science (American Association for the Advancement of Science) (12.02.2010)
Published in Science (American Association for the Advancement of Science) (12.02.2010)
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A genome-wide association study identifies three new risk loci for Kawasaki disease
Onouchi, Yoshihiro, Ozaki, Kouichi, Burns, Jane C, Shimizu, Chisato, Terai, Masaru, Hamada, Hiromichi, Honda, Takafumi, Suzuki, Hiroyuki, Suenaga, Tomohiro, Takeuchi, Takashi, Yoshikawa, Norishige, Suzuki, Yoichi, Yasukawa, Kumi, Ebata, Ryota, Higashi, Kouji, Saji, Tsutomu, Kemmotsu, Yasushi, Takatsuki, Shinichi, Ouchi, Kazunobu, Kishi, Fumio, Yoshikawa, Tetsushi, Nagai, Toshiro, Hamamoto, Kunihiro, Sato, Yoshitake, Honda, Akihito, Kobayashi, Hironobu, Sato, Junichi, Shibuta, Shoichi, Miyawaki, Masakazu, Oishi, Ko, Yamaga, Hironobu, Aoyagi, Noriyuki, Iwahashi, Seiji, Miyashita, Ritsuko, Murata, Yuji, Sasago, Kumiko, Takahashi, Atsushi, Kamatani, Naoyuki, Kubo, Michiaki, Tsunoda, Tatsuhiko, Hata, Akira, Nakamura, Yusuke, Tanaka, Toshihiro
Published in Nature genetics (01.05.2012)
Published in Nature genetics (01.05.2012)
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Variant in PNPLA3 is associated with alcoholic liver disease
Tian, Chao, Stokowski, Renee P, Kershenobich, David, Ballinger, Dennis G, Hinds, David A
Published in Nature genetics (01.01.2010)
Published in Nature genetics (01.01.2010)
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Subspecific origin and haplotype diversity in the laboratory mouse
Yang, Hyuna, Wang, Jeremy R, Didion, John P, Buus, Ryan J, Bell, Timothy A, Welsh, Catherine E, Bonhomme, François, Yu, Alex Hon-Tsen, Nachman, Michael W, Pialek, Jaroslav, Tucker, Priscilla, Boursot, Pierre, McMillan, Leonard, Churchill, Gary A, de Villena, Fernando Pardo-Manuel
Published in Nature genetics (01.07.2011)
Published in Nature genetics (01.07.2011)
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Chartier-Harlin, Marie-Christine, Dachsel, Justus C., Vilariño-Güell, Carles, Lincoln, Sarah J., Leprêtre, Frédéric, Hulihan, Mary M., Kachergus, Jennifer, Milnerwood, Austen J., Tapia, Lucia, Song, Mee-Sook, Le Rhun, Emilie, Mutez, Eugénie, Larvor, Lydie, Duflot, Aurélie, Vanbesien-Mailliot, Christel, Kreisler, Alexandre, Ross, Owen A., Nishioka, Kenya, Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., Melrose, Heather L., Behrouz, Bahareh, Keeling, Brett H., Bacon, Justin A., Hentati, Emna, Williams, Lindsey, Yanagiya, Akiko, Sonenberg, Nahum, Lockhart, Paul J., Zubair, Abba C., Uitti, Ryan J., Aasly, Jan O., Krygowska-Wajs, Anna, Opala, Grzegorz, Wszolek, Zbigniew K., Frigerio, Roberta, Maraganore, Demetrius M., Gosal, David, Lynch, Tim, Hutchinson, Michael, Bentivoglio, Anna Rita, Valente, Enza Maria, Nichols, William C., Pankratz, Nathan, Foroud, Tatiana, Gibson, Rachel A., Hentati, Faycal, Dickson, Dennis W., Destée, Alain, Farrer, Matthew J.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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