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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakırcıoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yılmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçınkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., Günel, Murat
Published in Nature (London) (09.09.2010)
Published in Nature (London) (09.09.2010)
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Point-of-care whole-exome sequencing of idiopathic male infertility
Fakhro, Khalid A, Elbardisi, Haitham, Arafa, Mohamed, Robay, Amal, Rodriguez-Flores, Juan L, Al-Shakaki, Alya, Syed, Najeeb, Mezey, Jason G, Abi Khalil, Charbel, Malek, Joel A, Al-Ansari, Abdulla, Al Said, Sami, Crystal, Ronald G
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis
Petrovski, Slavé, Todd, Jamie L., Durheim, Michael T., Wang, Quanli, Chien, Jason W., Kelly, Fran L., Frankel, Courtney, Mebane, Caroline M., Ren, Zhong, Bridgers, Joshua, Urban, Thomas J., Malone, Colin D., Finlen Copeland, Ashley, Brinkley, Christie, Allen, Andrew S., O’Riordan, Thomas, McHutchison, John G., Palmer, Scott M., Goldstein, David B.
Published in American journal of respiratory and critical care medicine (01.07.2017)
Published in American journal of respiratory and critical care medicine (01.07.2017)
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Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma
Jiang, Lu, Gu, Zhao-Hui, Yan, Zi-Xun, Zhao, Xia, Xie, Yin-Yin, Zhang, Zi-Guan, Pan, Chun-Ming, Hu, Yuan, Cai, Chang-Ping, Dong, Ying, Huang, Jin-Yan, Wang, Li, Shen, Yang, Meng, Guoyu, Zhou, Jian-Feng, Hu, Jian-Da, Wang, Jin-Fen, Liu, Yuan-Hua, Yang, Lin-Hua, Zhang, Feng, Wang, Jian-Min, Wang, Zhao, Peng, Zhi-Gang, Chen, Fang-Yuan, Sun, Zi-Min, Ding, Hao, Shi, Ju-Mei, Hou, Jian, Yan, Jin-Song, Shi, Jing-Yi, Xu, Lan, Li, Yang, Lu, Jing, Zheng, Zhong, Xue, Wen, Zhao, Wei-Li, Chen, Zhu, Chen, Sai-Juan
Published in Nature genetics (01.09.2015)
Published in Nature genetics (01.09.2015)
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Familial rhabdoid tumour 'avant la lettre'-from pathology review to exome sequencing and back again
Witkowski, Leora, Lalonde, Emilie, Zhang, Jian, Albrecht, Steffen, Hamel, Nancy, Cavallone, Luca, May, Sandra Thompson, Nicholson, James C, Coleman, Nicholas, Murray, Matthew J, Tauber, Peter F, Huntsman, David G, Schönberger, Stefan, Yandell, David, Hasselblatt, Martin, Tischkowitz, Marc D, Majewski, Jacek, Foulkes, William D
Published in The Journal of pathology (01.09.2013)
Published in The Journal of pathology (01.09.2013)
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Genetic architecture of laterality defects revealed by whole exome sequencing
Li, Alexander H., Hanchard, Neil A., Azamian, Mahshid, D’Alessandro, Lisa C. A., Coban-Akdemir, Zeynep, Lopez, Keila N., Hall, Nancy J., Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M., Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Ware, Stephanie M., Belmont, John W.
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies
Ellinghaus, David, Zhang, Hu, Zeissig, Sebastian, Lipinski, Simone, Till, Andreas, Jiang, Tao, Stade, Björn, Bromberg, Yana, Ellinghaus, Eva, Keller, Andreas, Rivas, Manuel A., Skieceviciene, Jurgita, Doncheva, Nadezhda T., Liu, Xiao, Liu, Qing, Jiang, Fuman, Forster, Michael, Mayr, Gabriele, Albrecht, Mario, Häsler, Robert, Boehm, Bernhard O., Goodall, Jane, Berzuini, Carlo R., Lee, James, Andersen, Vibeke, Vogel, Ulla, Kupcinskas, Limas, Kayser, Manfred, Krawczak, Michael, Nikolaus, Susanna, Weersma, Rinse K., Ponsioen, Cyriel Y., Sans, Miquel, Wijmenga, Cisca, Strachan, David P., McArdle, Wendy L., Vermeire, Séverine, Rutgeerts, Paul, Sanderson, Jeremy D., Mathew, Christopher G., Vatn, Morten H., Wang, Jun, Nöthen, Markus M., Duerr, Richard H., Büning, Carsten, Brand, Stephan, Glas, Jürgen, Winkelmann, Juliane, Illig, Thomas, Latiano, Anna, Annese, Vito, Halfvarson, Jonas, D'Amato, Mauro, Daly, Mark J., Nothnagel, Michael, Karlsen, Tom H., Subramani, Suresh, Rosenstiel, Philip, Schreiber, Stefan, Parkes, Miles, Franke, Andre
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2013)
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2013)
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
Chen, Rui, Giliani, Silvia, Lanzi, Gaetana, Mias, George I., Lonardi, Silvia, Dobbs, Kerry, Manis, John, Im, Hogune, Gallagher, Jennifer E., Phanstiel, Douglas H., Euskirchen, Ghia, Lacroute, Philippe, Bettinger, Keith, Moratto, Daniele, Weinacht, Katja, Montin, Davide, Gallo, Eleonora, Mangili, Giovanna, Porta, Fulvio, Notarangelo, Lucia D., Pedretti, Stefania, Al-Herz, Waleed, Alfahdli, Wasmi, Comeau, Anne Marie, Traister, Russell S., Pai, Sung-Yun, Carella, Graziella, Facchetti, Fabio, Nadeau, Kari C., Snyder, Michael, Notarangelo, Luigi D.
Published in Journal of allergy and clinical immunology (01.09.2013)
Published in Journal of allergy and clinical immunology (01.09.2013)
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Whole Exome Sequencing in Vaccine‐Induced Thrombotic Thrombocytopenia (VITT)
Giusti, Betti, Sticchi, Elena, Capezzuoli, Tommaso, Orsi, Rebecca, Squillantini, Lapo, Giannini, Marco, Suraci, Samuele, Rogolino, Angela Antonietta, Cesari, Francesca, Berteotti, Martina, Gori, Anna Maria, Lotti, Elena, Marcucci, Rossella
Published in BioMed research international (2024)
Published in BioMed research international (2024)
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Chen, Wan-Jin, Lin, Yu, Xiong, Zhi-Qi, Wei, Wei, Ni, Wang, Tan, Guo-He, Guo, Shun-Ling, He, Jin, Chen, Ya-Fang, Zhang, Qi-Jie, Li, Hong-Fu, Lin, Yi, Murong, Shen-Xing, Xu, Jianfeng, Wang, Ning, Wu, Zhi-Ying
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
Dinckan, N., Du, R., Petty, L.E., Coban-Akdemir, Z., Jhangiani, S.N., Paine, I., Baugh, E.H., Erdem, A.P., Kayserili, H., Doddapaneni, H., Hu, J., Muzny, D.M., Boerwinkle, E., Gibbs, R.A., Lupski, J.R., Uyguner, Z.O., Below, J.E., Letra, A.
Published in Journal of dental research (01.01.2018)
Published in Journal of dental research (01.01.2018)
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Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
Rafaelsen, Silje Hjorth, Ræder, Helge, Fagerheim, Anne Kristine, Knappskog, Per, Carpenter, Thomas O, Johansson, Stefan, Bjerknes, Robert
Published in Journal of bone and mineral research (01.06.2013)
Published in Journal of bone and mineral research (01.06.2013)
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
Martinez, Guillaume, Kherraf, Zine-Eddine, Zouari, Raoudha, Fourati Ben Mustapha, Selima, Saut, Antoine, Pernet-Gallay, Karin, Bertrand, Anne, Bidart, Marie, Hograindleur, Jean Pascal, Amiri-Yekta, Amir, Kharouf, Mahmoud, Karaouzène, Thomas, Thierry-Mieg, Nicolas, Dacheux-Deschamps, Denis, Satre, Véronique, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F, Coutton, Charles
Published in Human reproduction (Oxford) (01.10.2018)
Published in Human reproduction (Oxford) (01.10.2018)
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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Zhao, Sen, Zhang, Yuanqiang, Chen, Weisheng, Li, Weiyu, Wang, Shengru, Wang, Lianlei, Zhao, Yanxue, Lin, Mao, Ye, Yongyu, Lin, Jiachen, Zheng, Yu, Liu, Jiaqi, Zhao, Hengqiang, Yan, Zihui, Yang, Yongxin, Huang, Yingzhao, Lin, Guanfeng, Chen, Zefu, Zhang, Zhen, Liu, Sen, Jin, Lichao, Wang, Zhaoyang, Chen, Jingdan, Niu, Yuchen, Li, Xiaoxin, Wu, Yong, Wang, Yipeng, Du, Renqian, Gao, Na, Zhao, Hong, Yang, Ying, Liu, Ying, Tian, Ye, Li, Wenli, Zhao, Yu, Liu, Jia, Yu, Bin, Zhang, Na, Yu, Keyi, Yang, Xu, Li, Shugang, Xu, Yuan, Hu, Jianhua, Liu, Zhe, Shen, Jianxiong, Zhang, Shuyang, Su, Jianzhong, Khanshour, Anas M, Kidane, Yared H, Ramo, Brandon, Rios, Jonathan J, Liu, Pengfei, Sutton, V. Reid, Posey, Jennifer E, Wu, Zhihong, Qiu, Guixing, Wise, Carol A, Zhang, Feng, Lupski, James R, Zhang, Jianguo, Wu, Nan
Published in Journal of medical genetics (01.01.2021)
Published in Journal of medical genetics (01.01.2021)
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Variant detection sensitivity and biases in whole genome and exome sequencing
Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Published in BMC bioinformatics (19.07.2014)
Published in BMC bioinformatics (19.07.2014)
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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A
Published in Human reproduction (Oxford) (01.01.2020)
Published in Human reproduction (Oxford) (01.01.2020)
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Whole‐exome sequencing suggests multiallelic inheritance for childhood‐onset Ménière's disease
Skarp, Sini, Kanervo, Laura, Kotimäki, Jouko, Sorri, Martti, Männikkö, Minna, Hietikko, Elina
Published in Annals of human genetics (01.11.2019)
Published in Annals of human genetics (01.11.2019)
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