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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss 多种综合征性耳聋基因的变异模拟非综合征性听力损失 Bademci, G.; Cengiz, F. B.; Foster, J., II; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.; Kirazli, T.; Olgun, L.; Alper, H.; Menendez, I.; Loclar, I.; Sennaroglu, G.; Tokgoz-Yilmaz, S.; Guo, S.; Olgun, Y.; Mahdieh, N.; Bonyadi, M.; Bozan, N.; Ayral, A.; Ozkinay, F.; Yildirim-Baylan, M.; Blanton, S. H.; Tekin, M. 分享 收藏
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents Yan, Denise; Tekin, Demet; Bademci, Guney; Foster, Joseph, II; Cengiz, F. Basak; Kannan-Sundhari, Abhiraami; Guo, Shengru; Mittal, Rahul; Zou, Bing; Grati, Mhamed; Kabahuma, Rosemary I.; Kameswaran, Mohan; Lasisi, Taye J.; Adedeji, Waheed A.; Lasisi, Akeem O.; Menendez, Ibis; Herrera, Marianna; Carranza, Claudia; Maroofian, Reza; Crosby, Andrew H.; Bensaid, Mariem; Masmoudi, Saber; Behnam, Mahdiyeh; Mojarrad, Majid; Feng, Yong; Duman, Duygu; Mawla, Alex M.; Nord, Alex S.; Blanton, Susan H.; Liu, Xue Z.; Tekin, Mustafa 分享 收藏
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice Diaz-Horta, Oscar; Abad, Clemer; Sennaroglu, Levent; Foster, Joseph, II; DeSmidt, Alexandra; Bademci, Guney; Tokgoz-Yilmaz, Suna; Duman, Duygu; Cengiz, F. Basak; Grati, M'hamed; Fitoz, Suat; Liu, Xue Z.; Farooq, Amjad; Imtiaz, Faiqa; Currall, Benjamin B.; Morton, Cynthia Casson; Nishita, Michiru; Minami, Yasuhiro; Lu, Zhongmin; Walz, Katherina; Tekin, Mustafa 分享 收藏
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort 通过外显子组测序进行的综合分析揭示了大型多种族队列中常染色体隐性遗传性非综合征性耳聋的遗传病因 Bademci, Guney; Foster, Joseph, II; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F. Basak; Menendez, Ibis; Diaz-Horta, Oscar; Shirkavand, Atefeh; Zeinali, Sirous; Subasioglu, Asli; Tokgoz-Yilmaz, Suna; Huesca-Hernandez, Fabiola; de la Luz Arenas-Sordo, Maria; Dominguez-Aburto, Juan; Hernandez-Zamora, Edgar; Montenegro, Paola; Paredes, Rosario; Moreta, Germania; Vinueza, Rodrigo; Villegas, Franklin; Mendoza-Benitez, Santiago; Guo, Shengru; Bozan, Nazim; Tos, Tulay; Incesulu, Armagan; Sennaroglu, Gonca; Blanton, Susan H.; Ozturkmen-Akay, Hatice; Yildirim-Baylan, Muzeyyen; Tekin, Mustafa 分享 收藏
HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials Richman, Susan D.; Southward, Katie; Chambers, Philip; Cross, Debra; Barrett, Jennifer; Hemmings, Gemma; Taylor, Morag; Wood, Henry; Hutchins, Gordon; Foster, Joseph M.; Oumie, Assa; Spink, Karen G.; Brown, Sarah R.; Jones, Marc; Kerr, David; Handley, Kelly; Gray, Richard; Seymour, Matthew; Quirke, Philip 分享 收藏
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA Togneri, Fiona S.; Ward, Douglas G.; Foster, Joseph M.; Devall, Adam J.; Wojtowicz, Paula; Alyas, Sofia; Vasques, Fabiana Ramos; Oumie, Assa; James, Nicholas D.; Cheng, K. K.; Zeegers, Maurice P.; Deshmukh, Nayneeta; O'Sullivan, Brendan; Taniere, Philippe; Spink, Karen G.; McMullan, Dominic J.; Griffiths, Mike; Bryan, Richard T. 分享 收藏
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome Atik, Tahir; Koparir, Asuman; Bademci, Guney; Foster, Joseph, II; Altunoglu, Umut; Mutlu, Gul Yesiltepe; Bowdin, Sarah; Elcioglu, Nursel; Tayfun, Gulsen A.; Atik, Sevinc Sahin; Ozen, Mustafa; Ozkinay, Ferda; Alanay, Yasemin; Kayserili, Hulya; Thiel, Steffen; Tekin, Mustafa 分享 收藏
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Cross-site reproducibility and orthogonal validation of copy number and somatic mutation calls of OncoScan® FFPE Assay Kit in solid tumors Foster, Joseph M.; Oumie, Assa; Togneri, Fiona S.; Taylor, Morag; Alyas, Sofia; Wojtowicz, Paula; Wood, Henry; Tinkler-Hunda, Emma; Southward, Katie; McMullan, Dominic; Quirke, Phil; Keating, Katherine E.; Griffiths, Mike; Spink, Karen G.; Brew, Fiona; Fung, Eric; Schmidt, Jeanette 分享 收藏
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome Walz, Katherina; Cohen, Devon; Neilsen, Paul M.; Foster, Joseph, II; Brancati, Francesco; Demir, Korcan; Fisher, Richard; Moffat, Michelle; Verbeek, Nienke E.; Bjorgo, Kathrine; Lo Castro, Adriana; Curatolo, Paolo; Novelli, Giuseppe; Abad, Clemer; Lei, Cao; Zhang, Lily; Diaz-Horta, Oscar; Young, Juan I.; Callen, David F.; Tekin, Mustafa 分享 收藏
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing Diaz-Horta, Oscar; Subasioglu-Uzak, Asli; Grati, M'hamed; DeSmidt, Alexandra; Foster, Joseph, II; Cao, Lei; Bademci, Guney; Tokgoz-Yilmaz, Suna; Duman, Duygu; Cengiz, F. Basak; Abad, Clemer; Mittal, Rahul; Blanton, Susan; Liu, Xue Z.; Farooq, Amjad; Walz, Katherina; Lu, Zhongmin; Tekin, Mustafa 分享 收藏
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis Thorson, Willa; Diaz-Horta, Oscar; Foster, Joseph, II; Spiliopoulos, Michail; Quintero, Ruben; Farooq, Amjad; Blanton, Susan; Tekin, Mustafa 分享 收藏
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SLITRK6 mutations cause myopia and deafness in humans and mice Tekin, Mustafa; Chioza, Barry A.; Matsumoto, Yoshifumi; Diaz-Horta, Oscar; Cross, Harold E.; Duman, Duygu; Kokotas, Haris; Moore-Barton, Heather L.; Sakoori, Kazuto; Ota, Maya; Odaka, Yuri S.; Foster, Joseph, II; Cengiz, F. Basak; Tokgoz-Yilmaz, Suna; Tekeli, Oya; Grigoriadou, Maria; Petersen, Michael B.; Sreekantan-Nair, Ajith; Gurtz, Kay; Xia, Xia-Juan; Pandya, Arti; Patton, Michael A.; Young, Juan I.; Aruga, Jun; Crosby, Andrew H. 分享 收藏
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PRIDE Inspector: a tool to visualize and validate MS proteomics data Wang, Rui; Fabregat, Antonio; Rios, Daniel; Ovelleiro, David; Foster, Joseph M.; Cote, Richard G.; Griss, Johannes; Csordas, Attila; Perez-Riverol, Yasset; Reisinger, Florian; Hermjakob, Henning; Martens, Lennart; Vizcaino, Juan Antonio 分享 收藏
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