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Telomere Length Trajectory and Its Determinants in Persons with Coronary Artery Disease: Longitudinal Findings from the Heart and Soul Study
Farzaneh-Far, Ramin, Lin, Jue, Epel, Elissa, Lapham, Kyle, Blackburn, Elizabeth, Whooley, Mary A.
Published in PloS one (08.01.2010)
Published in PloS one (08.01.2010)
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Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
Cornec-Le Gall, Emilie, Olson, Rory J., Besse, Whitney, Heyer, Christina M., Gainullin, Vladimir G., Smith, Jessica M., Audrézet, Marie-Pierre, Hopp, Katharina, Porath, Binu, Shi, Beili, Baheti, Saurabh, Senum, Sarah R., Arroyo, Jennifer, Madsen, Charles D., Férec, Claude, Joly, Dominique, Jouret, François, Fikri-Benbrahim, Oussamah, Charasse, Christophe, Coulibaly, Jean-Marie, Yu, Alan S., Khalili, Korosh, Pei, York, Somlo, Stefan, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Schaaf, Christian P, Gonzalez-Garay, Manuel L, Xia, Fan, Potocki, Lorraine, Gripp, Karen W, Zhang, Baili, Peters, Brock A, McElwain, Mark A, Drmanac, Radoje, Beaudet, Arthur L, Caskey, C Thomas, Yang, Yaping
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Conservation, acquisition, and functional impact of sex-biased gene expression in mammals
Naqvi, Sahin, Godfrey, Alexander K., Hughes, Jennifer F., Goodheart, Mary L., Mitchell, Richard N., Page, David C.
Published in Science (American Association for the Advancement of Science) (19.07.2019)
Published in Science (American Association for the Advancement of Science) (19.07.2019)
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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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HLA alleles and haplotypes observed in 263 US families
Osoegawa, Kazutoyo, Mallempati, Kalyan C., Gangavarapu, Sridevi, Oki, Arisa, Gendzekhadze, Ketevan, Marino, Susana R., Brown, Nicholas K., Bettinotti, Maria P., Weimer, Eric T., Montero-Martín, Gonzalo, Creary, Lisa E., Vayntrub, Tamara A., Chang, Chia-Jung, Askar, Medhat, Mack, Steven J., Fernández-Viña, Marcelo A.
Published in Human immunology (01.09.2019)
Published in Human immunology (01.09.2019)
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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Diversity of Bifidobacteria within the Infant Gut Microbiota
Turroni, Francesca, Peano, Clelia, Pass, Daniel A., Foroni, Elena, Severgnini, Marco, Claesson, Marcus J., Kerr, Colm, Hourihane, Jonathan, Murray, Deirdre, Fuligni, Fabio, Gueimonde, Miguel, Margolles, Abelardo, De Bellis, Gianluca, O’Toole, Paul W., van Sinderen, Douwe, Marchesi, Julian R., Ventura, Marco
Published in PloS one (11.05.2012)
Published in PloS one (11.05.2012)
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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Prediction of phylogeographic endemism in an environmentally complex biome
Carnaval, Ana Carolina, Waltari, Eric, Rodrigues, Miguel T., Rosauer, Dan, VanDerWal, Jeremy, Damasceno, Roberta, Prates, Ivan, Strangas, Maria, Spanos, Zoe, Rivera, Danielle, Pie, Marcio R., Firkowski, Carina R., Bornschein, Marcos R., Ribeiro, Luiz F., Moritz, Craig
Published in Proceedings of the Royal Society. B, Biological sciences (07.10.2014)
Published in Proceedings of the Royal Society. B, Biological sciences (07.10.2014)
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Identification of Novel CELSR1 Mutations in Spina Bifida
Lei, Yunping, Zhu, Huiping, Yang, Wei, Ross, M. Elizabeth, Shaw, Gary M., Finnell, Richard H.
Published in PloS one (14.03.2014)
Published in PloS one (14.03.2014)
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DNAJC13 mutations in Parkinson disease
Vilariño-Güell, Carles, Rajput, Alex, Milnerwood, Austen J., Shah, Brinda, Szu-Tu, Chelsea, Trinh, Joanne, Yu, Irene, Encarnacion, Mary, Munsie, Lise N., Tapia, Lucia, Gustavsson, Emil K., Chou, Patrick, Tatarnikov, Igor, Evans, Daniel M., Pishotta, Frederick T., Volta, Mattia, Beccano-Kelly, Dayne, Thompson, Christina, Lin, Michelle K., Sherman, Holly E., Han, Heather J., Guenther, Bruce L., Wasserman, Wyeth W., Bernard, Virginie, Ross, Colin J., Appel-Cresswell, Silke, Stoessl, A. Jon, Robinson, Christopher A., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Aasly, Jan O., Wu, Ruey-Meei, Hentati, Faycal, Gibson, Rachel A., McPherson, Peter S., Girard, Martine, Rajput, Michele, Rajput, Ali H., Farrer, Matthew J.
Published in Human molecular genetics (01.04.2014)
Published in Human molecular genetics (01.04.2014)
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Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Ü. Basmanav, F. Buket, Cau, Laura, Tafazzoli, Aylar, Méchin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Garcia Bartels, Natalie, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J.P., Oprisoreanu, Ana-Maria, Wehner, Maria, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Swan, Daniel, Houniet, Darren, Büchner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz, Hamm, Henning, Farrant, Paul, Simon, Michel, Betz, Regina C.
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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AIBP-mediated cholesterol efflux instructs hematopoietic stem and progenitor cell fate
Gu, Qilin, Yang, Xiaojie, Lv, Jie, Zhang, Jiaxiong, Xia, Bo, Kim, Jun-dae, Wang, Ruoyu, Xiong, Feng, Meng, Shu, Clements, Thomas P., Tandon, Bhavna, Wagner, Daniel S., Diaz, Miguel F., Wenzel, Pamela L., Miller, Yury I., Traver, David, Cooke, John P., Li, Wenbo, Zon, Leonard I., Chen, Kaifu, Bai, Yongping, Fang, Longhou
Published in Science (American Association for the Advancement of Science) (08.03.2019)
Published in Science (American Association for the Advancement of Science) (08.03.2019)
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Mutations in PYCR1 cause cutis laxa with progeroid features
Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O'Connor, Brian D, Kegler, Mareen Schmidt-von, Merriman, Barry, Nelson, Stanley F, Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R, Steichen, Elisabeth, Sillence, David, Haußer, Ingrid, Budde, Birgit, Nürnberg, Gudrun, Nürnberg, Peter, Seemann, Petra, Kunkel, Désirée, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Identification and characterization of transmitted and early founder virus envelopes in primary HIV-1 infection
Keele, Brandon F, Giorgi, Elena E, Salazar-Gonzalez, Jesus F, Decker, Julie M, Pham, Kimmy T, Salazar, Maria G, Sun, Chuanxi, Grayson, Truman, Wang, Shuyi, Li, Hui, Wei, Xiping, Jiang, Chunlai, Kirchherr, Jennifer L, Gao, Feng, Anderson, Jeffery A, Ping, Li-Hua, Swanstrom, Ronald, Tomaras, Georgia D, Blattner, William A, Goepfert, Paul A, Kilby, J. Michael, Saag, Michael S, Delwart, Eric L, Busch, Michael P, Cohen, Myron S, Montefiori, David C, Haynes, Barton F, Gaschen, Brian, Athreya, Gayathri S, Lee, Ha Y, Wood, Natasha, Seoighe, Cathal, Perelson, Alan S, Bhattacharya, Tanmoy, Korber, Bette T, Hahn, Beatrice H, Shaw, George M
Published in Proceedings of the National Academy of Sciences - PNAS (27.05.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (27.05.2008)
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