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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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations
Amiri-Yekta, Amir, Coutton, Charles, Kherraf, Zine-Eddine, Karaouzène, Thomas, Le Tanno, Pauline, Sanati, Mohammad Hossein, Sabbaghian, Marjan, Almadani, Navid, Sadighi Gilani, Mohammad Ali, Hosseini, Seyedeh Hanieh, Bahrami, Salahadin, Daneshipour, Abbas, Bini, Maurizio, Arnoult, Christophe, Colombo, Roberto, Gourabi, Hamid, Ray, Pierre F.
Published in Human reproduction (Oxford) (01.12.2016)
Published in Human reproduction (Oxford) (01.12.2016)
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Journal Article
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease
Qiao, Dandi, Ameli, Asher, Prokopenko, Dmitry, Chen, Han, Kho, Alvin T, Parker, Margaret M, Morrow, Jarrett, Hobbs, Brian D, Liu, Yanhong, Beaty, Terri H, Crapo, James D, Barnes, Kathleen C, Nickerson, Deborah A, Bamshad, Michael, Hersh, Craig P, Lomas, David A, Agusti, Alvar, Make, Barry J, Calverley, Peter M A, Donner, Claudio F, Wouters, Emiel F, Vestbo, Jørgen, Paré, Peter D, Levy, Robert D, Rennard, Stephen I, Tal-Singer, Ruth, Spitz, Margaret R, Sharma, Amitabh, Ruczinski, Ingo, Lange, Christoph, Silverman, Edwin K, Cho, Michael H
Published in Human molecular genetics (01.11.2018)
Published in Human molecular genetics (01.11.2018)
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Journal Article
Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report
Yang, Peiqing, Pi, Xuenan, Marion, Tony N., Wang, Jing, Wang, Gang, Xie, Yan, Xie, Dan, Liu, Yi
Published in Medicine (Baltimore) (19.06.2020)
Published in Medicine (Baltimore) (19.06.2020)
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Journal Article
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Bonnefond, Amélie, Philippe, Julien, Durand, Emmanuelle, Dechaume, Aurélie, Huyvaert, Marlène, Montagne, Louise, Marre, Michel, Balkau, Beverley, Fajardy, Isabelle, Vambergue, Anne, Vatin, Vincent, Delplanque, Jérôme, Le Guilcher, David, De Graeve, Franck, Lecoeur, Cécile, Sand, Olivier, Vaxillaire, Martine, Froguel, Philippe
Published in PloS one (11.06.2012)
Published in PloS one (11.06.2012)
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Journal Article
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype–phenotype correlations
Wang, Qiqi, Li, Da, Cai, Baozhu, Chen, Qing, Li, Caihua, Wu, Yanhua, Jin, Li, Wang, Xiuxia, Zhang, Xiaojin, Zhang, Feng
Published in Human genetics (01.01.2019)
Published in Human genetics (01.01.2019)
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Journal Article
Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals
Gong, Weikang, Fu, Yan, Wu, Bang-Sheng, Du, Jingnan, Yang, Liu, Zhang, Ya-Ru, Chen, Shi-Dong, Kang, JuJiao, Mao, Ying, Dong, Qiang, Tan, Lan, Feng, Jianfeng, Cheng, Wei, Yu, Jin-Tai
Published in Nature communications (02.07.2024)
Published in Nature communications (02.07.2024)
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Journal Article
Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza
Schulert, Grant S., Zhang, Mingce, Fall, Ndate, Husami, Ammar, Kissell, Diane, Hanosh, Andrew, Zhang, Kejian, Davis, Kristina, Jentzen, Jeffrey M., Napolitano, Lena, Siddiqui, Javed, Smith, Lauren B., Harms, Paul W., Grom, Alexei A., Cron, Randy Q.
Published in The Journal of infectious diseases (01.04.2016)
Published in The Journal of infectious diseases (01.04.2016)
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Journal Article
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
Giannikou, Krinio, Malinowska, Izabela A, Pugh, Trevor J, Yan, Rachel, Tseng, Yuen-Yi, Oh, Coyin, Kim, Jaegil, Tyburczy, Magdalena E, Chekaluk, Yvonne, Liu, Yang, Alesi, Nicola, Finlay, Geraldine A, Wu, Chin-Lee, Signoretti, Sabina, Meyerson, Matthew, Getz, Gad, Boehm, Jesse S, Henske, Elizabeth P, Kwiatkowski, David J
Published in PLoS genetics (05.08.2016)
Published in PLoS genetics (05.08.2016)
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Journal Article
Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer
Toma, Claudio, Díaz‐Gay, Marcos, Franch‐Expósito, Sebastià, Arnau‐Collell, Coral, Overs, Bronwyn, Muñoz, Jenifer, Bonjoch, Laia, Soares de Lima, Yasmin, Ocaña, Teresa, Cuatrecasas, Miriam, Castells, Antoni, Bujanda, Luis, Balaguer, Francesc, Cubiella, Joaquín, Caldés, Trinidad, Fullerton, Janice M., Castellví‐Bel, Sergi
Published in International journal of cancer (15.03.2020)
Published in International journal of cancer (15.03.2020)
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Journal Article