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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Kernohan, Kristin D., Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M., Warman-Chardon, Jodi, Sadikovic, Bekim
Published in Clinical epigenetics (05.09.2016)
Published in Clinical epigenetics (05.09.2016)
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Journal Article
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
Cananzi, Mara, Wohler, Elizabeth, Marzollo, Antonio, Colavito, Davide, You, Jing, Jing, Huie, Bresolin, Silvia, Gaio, Paola, Martin, Renan, Mescoli, Claudia, Bade, Sangeeta, Posey, Jennifer E., Dalle Carbonare, Maurizio, Tung, Wesley, Jhangiani, Shalini N., Bosa, Luca, Zhang, Yu, Filho, Joselito Sobreira, Gabelli, Maria, Kellermayer, Richard, Kader, Howard A., Oliva-Hemker, Maria, Perilongo, Giorgio, Lupski, James R., Biffi, Alessandra, Valle, David, Leon, Alberta, de Macena Sobreira, Nara Lygia, Su, Helen C., Guerrerio, Anthony L.
Published in Human genetics (01.09.2021)
Published in Human genetics (01.09.2021)
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Journal Article
Identification of loci associated with schizophrenia by genome-wide association and follow-up
O'Donovan, Michael C, Craddock, Nicholas, Norton, Nadine, Williams, Hywel, Peirce, Timothy, Moskvina, Valentina, Nikolov, Ivan, Hamshere, Marian, Carroll, Liam, Georgieva, Lyudmila, Dwyer, Sarah, Holmans, Peter, Marchini, Jonathan L, Spencer, Chris C A, Howie, Bryan, Leung, Hin-Tak, Hartmann, Annette M, Möller, Hans-Jürgen, Morris, Derek W, Shi, YongYong, Feng, GuoYin, Hoffmann, Per, Propping, Peter, Vasilescu, Catalina, Maier, Wolfgang, Rietschel, Marcella, Zammit, Stanley, Schumacher, Johannes, Quinn, Emma M, Schulze, Thomas G, Williams, Nigel M, Giegling, Ina, Iwata, Nakao, Ikeda, Masashi, Darvasi, Ariel, Shifman, Sagiv, He, Lin, Duan, Jubao, Sanders, Alan R, Levinson, Douglas F, Gejman, Pablo V, Cichon, Sven, Nöthen, Markus M, Gill, Michael, Corvin, Aiden, Rujescu, Dan, Kirov, George, Owen, Michael J
Published in Nature genetics (01.09.2008)
Published in Nature genetics (01.09.2008)
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Journal Article
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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Journal Article
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Amar, Ali, Afzal, Ayesha, Hameed, Athar, Ahmad, Mumtaz, Khan, Abdul Rafay, Najma, Humaira, Abid, Aiysha, Khaliq, Shagufta
Published in BMC medical genetics (25.08.2020)
Published in BMC medical genetics (25.08.2020)
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Journal Article
Increased protein intake affects pro-opiomelanocortin (POMC) processing, immune function and IGF signaling in peripheral blood mononuclear cells of home-dwelling old subjects using a genome-wide gene expression approach
Gjevestad, Gyrd O., Holven, Kirsten B., Rundblad, Amanda, Flatberg, Arnar, Myhrstad, Mari, Karlsen, Karina, Mutt, Shivaprakash J., Herzig, Karl-Heinz, Ottestad, Inger, Ulven, Stine M.
Published in Genes & nutrition (28.11.2019)
Published in Genes & nutrition (28.11.2019)
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Journal Article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis
Amar, Ali, Majmundar, Amar J., Ullah, Ihsan, Afzal, Ayesha, Braun, Daniela A., Shril, Shirlee, Daga, Ankana, Jobst-Schwan, Tilman, Ahmad, Mumtaz, Sayer, John A., Gee, Heon Yung, Halbritter, Jan, Knöpfel, Thomas, Hernando, Nati, Werner, Andreas, Wagner, Carsten, Khaliq, Shagufta, Hildebrandt, Friedhelm
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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Journal Article
Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
Cirillo, Emilia, Giardino, Giuliana, Gallo, Vera, Puliafito, Pamela, Azzari, Chiara, Bacchetta, Rosa, Cardinale, Fabio, Cicalese, Maria Pia, Consolini, Rita, Martino, Silvana, Martire, Baldassarre, Molinatto, Cristina, Plebani, Alessandro, Scarano, Gioacchino, Soresina, Annarosa, Cancrini, Caterina, Rossi, Paolo, Digilio, Maria Cristina, Pignata, Claudio
Published in BMC genetics (02.01.2014)
Published in BMC genetics (02.01.2014)
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Journal Article
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Roux, Isabelle, Fenollar-Ferrer, Cristina, Lee, Hyun Jae, Chattaraj, Parna, Lopez, Ivan A., Han, Kyungreem, Honda, Keiji, Brewer, Carmen C., Butman, John A., Morell, Robert J., Martin, Donna M., Griffith, Andrew J.
Published in Human genetics (01.10.2023)
Published in Human genetics (01.10.2023)
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Journal Article
XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a
Sun, Yi-Xi, Zhang, Yi-Xin, Zhang, Dan, Xu, Chen-Ming, Chen, Song-Chang, Zhang, Jun-Yu, Ruan, Ye-Chun, Chen, Feng, Zhang, Run-Ju, Qian, Ye-Qing, Liu, Yi-Feng, Jin, Lu-Yang, Yu, Tian-Tian, Xu, Hai-Yan, Luo, Yu-Qin, Liu, Xin-Mei, Sun, Fei, Sheng, Jian-Zhong, Huang, He-Feng
Published in Human genetics (01.02.2017)
Published in Human genetics (01.02.2017)
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Journal Article
Exposure to NO2, CO, and PM2.5 is linked to regional DNA methylation differences in asthma
Prunicki, Mary, Stell, Laurel, Dinakarpandian, Deendayal, de Planell-Saguer, Mariangels, Lucas, Richard W., Hammond, S. Katharine, Balmes, John R., Zhou, Xiaoying, Paglino, Tara, Sabatti, Chiara, Miller, Rachel L., Nadeau, Kari C.
Published in Clinical epigenetics (05.01.2018)
Published in Clinical epigenetics (05.01.2018)
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Journal Article
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes
Wang, Linghua, Ni, Xiao, Covington, Kyle R, Yang, Betty Y, Shiu, Jessica, Zhang, Xiang, Xi, Liu, Meng, Qingchang, Langridge, Timothy, Drummond, Jennifer, Donehower, Lawrence A, Doddapaneni, Harshavardhan, Muzny, Donna M, Gibbs, Richard A, Wheeler, David A, Duvic, Madeleine
Published in Nature genetics (01.12.2015)
Published in Nature genetics (01.12.2015)
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Journal Article
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Jackson, Anne U, Wheeler, Eleanor, Bouatia-Naji, Nabila, Morris, Andrew P, Rybin, Denis, Thorleifsson, Gudmar, Steinthorsdottir, Valgerdur, Grallert, Harald, Dehghan, Abbas, Franklin, Christopher S, Song, Kijoung, Egan, Josephine M, Lajunen, Taina, Doney, Alex, Kanoni, Stavroula, Qi, Lu, Gieger, Christian, Payne, Felicity, Roccasecca, Rosa Maria, Sethupathy, Praveen, Balkau, Beverley, Barter, Philip, Beilby, John P, Benediktsson, Rafn, Bergmann, Sven, Bumpstead, Suzannah J, Chines, Peter, Cornelis, Marilyn, Day, Ian N M, de Geus, Eco J C, Dina, Christian, Erdos, Michael R, Fedson, Annette C, Fischer-Rosinsky, Antje, Graessler, Jürgen, Grundy, Scott, Hartikainen, Anna-Liisa, Hassanali, Neelam, Hayward, Caroline, Heath, Simon C, Herder, Christian, Hicks, Andrew A, Hillman, David R, Hingorani, Aroon D, Hui, Jennie, Isomaa, Bo, Johnson, Paul R V, Jula, Antti, Kaakinen, Marika, Kesaniemi, Y Antero, Kivimaki, Mika, Knight, Beatrice, Mahley, Robert, Mangino, Massimo, McAteer, Jarred B, McPherson, Ruth, Morken, Mario A, Mukherjee, Sutapa, Naitza, Silvia, Narisu, Narisu, Pattaro, Cristian, Pedersen, Nancy L, Pichler, Irene, Polasek, Ozren, Posthuma, Danielle, Province, Michael A, Psaty, Bruce M, Roden, Michael, Sanna, Serena, Sayer, Avan Aihie, Scheet, Paul, Scott, Laura J, Seedorf, Udo, Shields, Beverley, Simpson, Laila, Swift, Amy, Syvänen, Ann-Christine, Tanaka, Toshiko, Thorand, Barbara, Tichet, Jean, Varma, Dhiraj, Vitart, Veronique, Waeber, Gérard, Walley, Andrew, Walters, G Bragi, Wild, Sarah H, Zelenika, Diana, Zhai, Guangju, Zillikens, M Carola, Meneton, Pierre, Magnusson, Patrik K E, Salomaa, Veikko, Schwarz, Peter, Karpe, Fredrik, Dedoussis, George V, Kuusisto, Johanna, Pedersen, Oluf, Pramstaller, Peter Paul, Wichmann, H Erich, Stumvoll, Michael
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Journal Article
Corrigendum: Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
Wang, Li-Dong, Zhou, Fu-You, Li, Xue-Min, Song, Xin, Jin, Yan, Li, Jiang-Man, Cui, Juan, Zhang, Lian-Qun, Yang, Jie-Zhi, Li, Ji-Lin, Li, Xing-Chuan, Ren, Jing-Li, Liu, Zhi-Cai, Gao, Wen-Jun, Yuan, Ling, Wei, Wu, Sheyhidin, Ilyar, Li, Feng, Chen, Bao-Ping, Ren, Shu-Wei, Liu, Bin, Li, Dan, Ku, Jian-Wei, Fan, Zong-Min, Zhou, Sheng-Li, Liu, Na, Ai, Yong-Hong, Shen, Fang-Fang, Cui, Wen-Yan, Song, Shuang, Guo, Tao, Huang, Jing, Huang, Jia, Wu, Yue, Feng, Chang-Wei, Li, Hong-Lei, Wang, Yan, Tian, Jin-Ya, Fu, Wen-Jing, Wang, Han-Jing, Han, Suo-Li, Chen, Jie, Han, Min, Wang, Hai-Yan, Zhang, Peng, Li, Xiu-Min, Dong, Jin-Cheng, Xing, Guo-Lan, Wang, Ran, Guo, Ming, Liu, Hai-Lin, Guo, Li, Yuan, Zhi-Qing, Liu, Hai, Lu, Qin, Yang, Liu-Qin, Zhu, Fu-Guo, Feng, Xiao-Shan, Wang, Zhou, Li, Yin, Gao, She-Gan, Qige, Qirenwang, Yang, Wen-Jun, Shen, Zhong-Ying, Chen, Long-Qi, Li, En-Min, Xu, Li-Yan, Cao, Wei-Ke, Bao, Zhi-Qin, Chen, Ji-Li, Zhou, Ying-Fa, Zuo, Xian-Bo, Dong, Zi-Ming, Fan, Dong-Mei, He, Xin, Zhou, Qi, Zhang, Qin-Xian, Jiao, Xin-Ying, Lian, Shi-Yong, Ji, Ai-Fang, Lu, Xiao-Mei, Wang, Jin-Sheng, Chang, Fu-Bao, Lu, Chang-Dong, Chen, Zhi-Guo, Fan, Zeng-Lin, Liu, Tai-Jiang, Wei, Jin-Chang, Kong, Qing-Peng, Lan, Yu, Fan, Yu-Jing, Gao, Fu-Sheng, Xie, Dong, Chen, Shu-Qing, Yang, Wan-Cai, Hong, Jun-Yan, Wang, Liang, Qiu, Song-Liang, Cai, Zhi-Ming, Zhang, Xue-Jun
Published in Nature genetics (01.09.2014)
Published in Nature genetics (01.09.2014)
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Journal Article
Proposed guidelines to evaluate scientific validity and evidence for genotype-based dietary advice
Grimaldi, Keith A., van Ommen, Ben, Ordovas, Jose M., Parnell, Laurence D., Mathers, John C., Bendik, Igor, Brennan, Lorraine, Celis-Morales, Carlos, Cirillo, Elisa, Daniel, Hannelore, de Kok, Brenda, El-Sohemy, Ahmed, Fairweather-Tait, Susan J., Fallaize, Rosalind, Fenech, Michael, Ferguson, Lynnette R., Gibney, Eileen R., Gibney, Mike, Gjelstad, Ingrid M. F., Kaput, Jim, Karlsen, Anette S., Kolossa, Silvia, Lovegrove, Julie, Macready, Anna L., Marsaux, Cyril F. M., Alfredo Martinez, J., Milagro, Fermin, Navas-Carretero, Santiago, Roche, Helen M., Saris, Wim H. M., Traczyk, Iwona, van Kranen, Henk, Verschuren, Lars, Virgili, Fabio, Weber, Peter, Bouwman, Jildau
Published in Genes & nutrition (15.12.2017)
Published in Genes & nutrition (15.12.2017)
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Journal Article
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth
An, Yu, Zhang, Linna, Liu, Wenwen, Jiang, Yunyun, Chen, Xue, Lan, Xiaoping, Li, Gan, Hang, Qiang, Wang, Jian, Gusella, James F., Du, Yasong, Shen, Yiping
Published in Human genetics (01.04.2020)
Published in Human genetics (01.04.2020)
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Journal Article
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
Arking, Dan E, Pfeufer, Arne, Post, Wendy, Kao, W H Linda, Newton-Cheh, Christopher, Ikeda, Morna, West, Kristen, Kashuk, Carl, Akyol, Mahmut, Perz, Siegfried, Jalilzadeh, Shapour, Illig, Thomas, Gieger, Christian, Guo, Chao-Yu, Larson, Martin G, Wichmann, H Erich, Marbán, Eduardo, O'Donnell, Christopher J, Hirschhorn, Joel N, Kääb, Stefan, Spooner, Peter M, Meitinger, Thomas, Chakravarti, Aravinda
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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