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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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Mitochondrial DNA copy number in peripheral blood cells declines with age and is associated with general health among elderly
Mengel-From, Jonas, Thinggaard, Mikael, Dalgård, Christine, Kyvik, Kirsten Ohm, Christensen, Kaare, Christiansen, Lene
Published in Human genetics (01.09.2014)
Published in Human genetics (01.09.2014)
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Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus
Morris, David L, Sheng, Yujun, Zhang, Yan, Wang, Yong-Fei, Zhu, Zhengwei, Tombleson, Philip, Chen, Lingyan, Cunninghame Graham, Deborah S, Bentham, James, Roberts, Amy L, Chen, Ruoyan, Zuo, Xianbo, Wang, Tingyou, Wen, Leilei, Yang, Chao, Liu, Lu, Yang, Lulu, Li, Feng, Huang, Yuanbo, Yin, Xianyong, Yang, Sen, Rönnblom, Lars, Fürnrohr, Barbara G, Voll, Reinhard E, Schett, Georg, Costedoat–Chalumeau, Nathalie, Gaffney, Patrick M, Lau, Yu Lung, Zhang, Xuejun, Yang, Wanling, Cui, Yong, Vyse, Timothy J
Published in Nature genetics (01.08.2016)
Published in Nature genetics (01.08.2016)
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Genome-wide association study identifies five new schizophrenia loci
Ripke, Stephan, Sanders, Alan R, Kendler, Kenneth S, Levinson, Douglas F, Sklar, Pamela, Holmans, Peter A, Lin, Dan-Yu, Duan, Jubao, Ophoff, Roel A, Andreassen, Ole A, Scolnick, Edward, Cichon, Sven, St Clair, David, Corvin, Aiden, Gurling, Hugh, Werge, Thomas, Rujescu, Dan, Blackwood, Douglas H R, Pato, Carlos N, Malhotra, Anil K, Purcell, Shaun, Dudbridge, Frank, Neale, Benjamin M, Rossin, Lizzy, Visscher, Peter M, Posthuma, Danielle, Ruderfer, Douglas M, Fanous, Ayman, Stefansson, Hreinn, Steinberg, Stacy, Mowry, Bryan J, Golimbet, Vera, De Hert, Marc, Jonsson, Erik G, Bitter, Istvan, Pietilaeinen, Olli P H, Collier, David A, Tosato, Sarah, Agartz, Ingrid, Albus, Margot, Alexander, Madeline, Amdur, Richard L, Amin, Farooq, Bass, Nicholas, Bergen, Sarah E, Black, Donald W, Boerglum, Anders D, Brown, Matthew A, Bruggeman, Richard, Buccola, Nancy G
Published in Nature genetics (01.10.2011)
Published in Nature genetics (01.10.2011)
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Research ethics and the challenge of whole-genome sequencing
McGuire, Amy L., Caulfield, Timothy, Cho, Mildred K.
Published in Nature reviews. Genetics (01.02.2008)
Published in Nature reviews. Genetics (01.02.2008)
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder
Gui, Yaoting, Guo, Guangwu, Huang, Yi, Hu, Xueda, Tang, Aifa, Gao, Shengjie, Wu, Renhua, Chen, Chao, Li, Xianxin, Zhou, Liang, He, Minghui, Li, Zesong, Sun, Xiaojuan, Jia, Wenlong, Chen, Jinnong, Yang, Shangming, Zhou, Fangjian, Zhao, Xiaokun, Wan, Shengqing, Ye, Rui, Liang, Chaozhao, Liu, Zhisheng, Huang, Peide, Liu, Chunxiao, Jiang, Hui, Wang, Yong, Zheng, Hancheng, Sun, Liang, Liu, Xingwang, Jiang, Zhimao, Feng, Dafei, Chen, Jing, Wu, Song, Zou, Jing, Zhang, Zhongfu, Yang, Ruilin, Zhao, Jun, Xu, Congjie, Yin, Weihua, Guan, Zhichen, Ye, Jiongxian, Zhang, Hong, Li, Jingxiang, Kristiansen, Karsten, Nickerson, Michael L, Theodorescu, Dan, Li, Yingrui, Zhang, Xiuqing, Li, Songgang, Wang, Jian, Yang, Huanming, Wang, Jun, Cai, Zhiming
Published in Nature genetics (01.09.2011)
Published in Nature genetics (01.09.2011)
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Detectable clonal mosaicism from birth to old age and its relationship to cancer
Laurie, Cathy C, Laurie, Cecelia A, Rice, Kenneth, Doheny, Kimberly F, Zelnick, Leila R, McHugh, Caitlin P, Ling, Hua, Hetrick, Kurt N, Pugh, Elizabeth W, Amos, Chris, Wei, Qingyi, Wang, Li-e, Lee, Jeffrey E, Barnes, Kathleen C, Hansel, Nadia N, Mathias, Rasika, Daley, Denise, Beaty, Terri H, Scott, Alan F, Ruczinski, Ingo, Scharpf, Rob B, Bierut, Laura J, Hartz, Sarah M, Landi, Maria Teresa, Freedman, Neal D, Goldin, Lynn R, Ginsburg, David, Li, Jun, Desch, Karl C, Strom, Sara S, Blot, William J, Signorello, Lisa B, Ingles, Sue A, Chanock, Stephen J, Berndt, Sonja I, Le Marchand, Loic, Henderson, Brian E, Monroe, Kristine R, Heit, John A, de Andrade, Mariza, Armasu, Sebastian M, Regnier, Cynthia, Lowe, William L, Hayes, M Geoffrey, Marazita, Mary L, Feingold, Eleanor, Murray, Jeffrey C, Melbye, Mads, Feenstra, Bjarke, Kang, Jae H, Wiggs, Janey L, Jarvik, Gail P, McDavid, Andrew N, Seshan, Venkatraman E, Mirel, Daniel B, Crenshaw, Andrew, Sharopova, Nataliya, Wise, Anastasia, Shen, Jess, Crosslin, David R, Levine, David M, Zheng, Xiuwen, Udren, Jenna I, Bennett, Siiri, Nelson, Sarah C, Gogarten, Stephanie M, Conomos, Matthew P, Heagerty, Patrick, Manolio, Teri, Pasquale, Louis R, Haiman, Christopher A, Caporaso, Neil, Weir, Bruce S
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
Ghazi, Nicola G., Abboud, Emad B., Nowilaty, Sawsan R., Alkuraya, Hisham, Alhommadi, Abdulrahman, Cai, Huimin, Hou, Rui, Deng, Wen-Tao, Boye, Sanford L., Almaghamsi, Abdulrahman, Al Saikhan, Fahad, Al-Dhibi, Hassan, Birch, David, Chung, Christopher, Colak, Dilek, LaVail, Matthew M., Vollrath, Douglas, Erger, Kirsten, Wang, Wenqiu, Conlon, Thomas, Zhang, Kang, Hauswirth, William, Alkuraya, Fowzan S.
Published in Human genetics (01.03.2016)
Published in Human genetics (01.03.2016)
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The complex genetics of hypoplastic left heart syndrome
Liu, Xiaoqin, Yagi, Hisato, Saeed, Shazina, Bais, Abha S, Gabriel, George C, Chen, Zhaohan, Peterson, Kevin A, Li, You, Schwartz, Molly C, Reynolds, William T, Saydmohammed, Manush, Gibbs, Brian, Wu, Yijen, Devine, William, Chatterjee, Bishwanath, Klena, Nikolai T, Kostka, Dennis, de Mesy Bentley, Karen L, Ganapathiraju, Madhavi K, Dexheimer, Phillip, Leatherbury, Linda, Khalifa, Omar, Bhagat, Anchit, Zahid, Maliha, Pu, William, Watkins, Simon, Grossfeld, Paul, Murray, Stephen A, Porter, George A, Tsang, Michael, Martin, Lisa J, Benson, D Woodrow, Aronow, Bruce J, Lo, Cecilia W
Published in Nature genetics (01.07.2017)
Published in Nature genetics (01.07.2017)
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α/β-Globin mRNA ratio determination by multiplex quantitative real-time reverse transcription-polymerase chain reaction as an indicator of globin gene function
Chaisue, Chulaporn, Kitcharoen, Suttiphan, Wilairat, Prapon, Jetsrisuparb, Arunee, Fucharoen, Goonnapa, Fucharoen, Supan
Published in Clinical biochemistry (01.12.2007)
Published in Clinical biochemistry (01.12.2007)
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
Ferreira, Manuel A, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, van Dongen, Jenny, Lu, Yi, Rüschendorf, Franz, Esparza-Gordillo, Jorge, Medway, Chris W, Mountjoy, Edward, Burrows, Kimberley, Hummel, Oliver, Grosche, Sarah, Brumpton, Ben M, Witte, John S, Hottenga, Jouke-Jan, Willemsen, Gonneke, Zheng, Jie, Rodríguez, Elke, Hotze, Melanie, Franke, Andre, Revez, Joana A, Beesley, Jonathan, Matheson, Melanie C, Dharmage, Shyamali C, Bain, Lisa M, Fritsche, Lars G, Gabrielsen, Maiken E, Balliu, Brunilda, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O, Thompson, Philip J, Martin, Nicholas G, Duffy, David L, Novak, Natalija, Schulz, Holger, Karrasch, Stefan, Gieger, Christian, Strauch, Konstantin, Melles, Ronald B, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik K E, Jansen, Rick, Jorgenson, Eric, Lee, Young-Ae, Boomsma, Dorret I, Almqvist, Catarina, Karlsson, Robert, Koppelman, Gerard H, Paternoster, Lavinia
Published in Nature genetics (01.12.2017)
Published in Nature genetics (01.12.2017)
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Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease
Kottyan, Leah C, Davis, Benjamin P, Sherrill, Joseph D, Liu, Kan, Rochman, Mark, Kaufman, Kenneth, Weirauch, Matthew T, Vaughn, Samuel, Lazaro, Sara, Rupert, Andrew M, Kohram, Mojtaba, Stucke, Emily M, Kemme, Katherine A, Magnusen, Albert, He, Hua, Dexheimer, Phillip, Chehade, Mirna, Wood, Robert A, Pesek, Robbie D, Vickery, Brian P, Fleischer, David M, Lindbad, Robert, Sampson, Hugh A, Mukkada, Vincent A, Putnam, Phil E, Abonia, J Pablo, Martin, Lisa J, Harley, John B, Rothenberg, Marc E
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Viñuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, McCarthy, Mark I.
Published in Nature genetics (01.04.2018)
Published in Nature genetics (01.04.2018)
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Comprehensive characterization of protein–protein interactions perturbed by disease mutations
Cheng, Feixiong, Zhao, Junfei, Wang, Yang, Lu, Weiqiang, Liu, Zehui, Zhou, Yadi, Martin, William R., Wang, Ruisheng, Huang, Jin, Hao, Tong, Yue, Hong, Ma, Jing, Hou, Yuan, Castrillon, Jessica A., Fang, Jiansong, Lathia, Justin D., Keri, Ruth A., Lightstone, Felice C., Antman, Elliott Marshall, Rabadan, Raul, Hill, David E., Eng, Charis, Vidal, Marc, Loscalzo, Joseph
Published in Nature genetics (01.03.2021)
Published in Nature genetics (01.03.2021)
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Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition
Inoue, Daichi, Polaski, Jacob T., Taylor, Justin, Castel, Pau, Chen, Sisi, Kobayashi, Susumu, Hogg, Simon J., Hayashi, Yasutaka, Pineda, Jose Mario Bello, El Marabti, Ettaib, Erickson, Caroline, Knorr, Katherine, Fukumoto, Miki, Yamazaki, Hiromi, Tanaka, Atsushi, Fukui, Chie, Lu, Sydney X., Durham, Benjamin H., Liu, Bo, Wang, Eric, Mehta, Sanjoy, Zakheim, Daniel, Garippa, Ralph, Penson, Alex, Chew, Guo-Liang, McCormick, Frank, Bradley, Robert K., Abdel-Wahab, Omar
Published in Nature genetics (01.05.2021)
Published in Nature genetics (01.05.2021)
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