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Identification of a regulatory pathway governing TRAF1 via an arthritis-associated non-coding variant
Wang, Qiang, Martínez-Bonet, Marta, Kim, Taehyeung, Sparks, Jeffrey A., Ishigaki, Kazuyoshi, Chen, Xiaoting, Sudman, Marc, Aguiar, Vitor, Sim, Sangwan, Hernandez, Marcos Chiñas, Chiu, Darren J., Wactor, Alexandra, Wauford, Brian, Marion, Miranda C., Gutierrez-Arcelus, Maria, Bowes, John, Eyre, Stephen, Nordal, Ellen, Prahalad, Sampath, Rygg, Marite, Videm, Vibeke, Raychaudhuri, Soumya, Weirauch, Matthew T., Langefeld, Carl D., Thompson, Susan D., Nigrovic, Peter A.
Published in Cell genomics (08.11.2023)
Published in Cell genomics (08.11.2023)
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Journal Article
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Nabavizadeh, Nasrinsadat, Bressin, Annkatrin, Shboul, Mohammad, Moreno Traspas, Ricardo, Chia, Poh Hui, Bonnard, Carine, Szenker‐Ravi, Emmanuelle, Sarıbaş, Burak, Beillard, Emmanuel, Altunoglu, Umut, Hojati, Zohreh, Drutman, Scott, Freier, Susanne, El‐Khateeb, Mohammad, Fathallah, Rajaa, Casanova, Jean‐Laurent, Soror, Wesam, Arafat, Alaa, Escande‐Beillard, Nathalie, Mayer, Andreas, Reversade, Bruno
Published in EMBO molecular medicine (08.02.2023)
Published in EMBO molecular medicine (08.02.2023)
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Journal Article
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
Bryen, Samantha J., Joshi, Himanshu, Evesson, Frances J., Girard, Cyrille, Ghaoui, Roula, Waddell, Leigh B., Testa, Alison C., Cummings, Beryl, Arbuckle, Susan, Graf, Nicole, Webster, Richard, MacArthur, Daniel G., Laing, Nigel G., Davis, Mark R., Lührmann, Reinhard, Cooper, Sandra T.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Journal Article
Non‐coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women
Blue, Elizabeth E., Thornton, Timothy A., Kooperberg, Charles, Liu, Simin, Wactawski‐Wende, Jean, Manson, JoAnn, Kuller, Lew, Hayden, Kathleen, Reiner, Alexander P.
Published in Alzheimer's & dementia (01.02.2021)
Published in Alzheimer's & dementia (01.02.2021)
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Journal Article
Key Non-coding Variants in Three Neuroapoptosis and Neuroinflammation-Related LncRNAs Are Protectively Associated with Susceptibility to Parkinson’s Disease and Some of Its Clinical Features
Shadkam, Roshanak, Saadat, Payam, Azadmehr, Abbas, Chehrazi, Mohammad, Daraei, Abdolreza
Published in Molecular neurobiology (01.05.2024)
Published in Molecular neurobiology (01.05.2024)
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Journal Article
A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression
Li, You, Li, Zhiqiang, Chen, Ruiling, Lian, Min, Wang, Hanxiao, Wei, Yiran, You, Zhengrui, Zhang, Jun, Li, Bo, Li, Yikang, Huang, Bingyuan, Chen, Yong, Liu, Qiaoyan, Lyu, Zhuwan, Liang, Xueying, Miao, Qi, Xiao, Xiao, Wang, Qixia, Fang, Jingyuan, Shi, YongYong, Liu, Xiangdong, Seldin, Michael F., Gershwin, M. Eric, Tang, Ruqi, Ma, Xiong
Published in Nature communications (28.03.2023)
Published in Nature communications (28.03.2023)
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Journal Article
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants
David M. McGaughey, Panagiotis I. Sergouniotis, David J. Green, Cerys S Manning, Eva Lenassi, Jamie M Ellingford, Graeme C.M. Black, Vinod Kumar Sharma
Published in Investigative Opthalmology & Visual Science (08.03.2021)
Published in Investigative Opthalmology & Visual Science (08.03.2021)
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Journal Article
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
Lecca, Mauro, Bedeschi, Maria Francesca, Izzi, Claudia, Dordoni, Chiara, Rinaldi, Berardo, Peluso, Francesca, Caraffi, Stefano Giuseppe, Prefumo, Federico, Signorelli, Marino, Zanzucchi, Matteo, Bione, Silvia, Ghigna, Claudia, Sassi, Silvia, Novelli, Antonio, Valente, Enza Maria, Superti‐Furga, Andrea, Garavelli, Livia, Errichiello, Edoardo
Published in Clinical genetics (01.08.2023)
Published in Clinical genetics (01.08.2023)
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Journal Article
Role of Non-Coding Variants of NLGN-3 and 4x Genes along with Non-Genetic Factors in Autism Spectrum Disorder (ASD) in Selected Population in Bangladesh: Non-coding variants in ASD
Khaleda, Laila, Priya, Israt Akter, Apu, Md. Abdur Rahman, Datta, Amit, Muhuri, Basana Rani, Al Forkan, Mohammad
Published in Bangladesh Medical Research Council bulletin (28.07.2022)
Published in Bangladesh Medical Research Council bulletin (28.07.2022)
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Journal Article
Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees
Velazquez-Arcelay, Keila, Benton, Mary Lauren, Capra, John A.
Published in BMC ecology and evolution (23.05.2022)
Published in BMC ecology and evolution (23.05.2022)
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Journal Article
Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia
Aref-Eshghi, Erfan, Hurley, Oliver, Sun, Guang, Simms, Alvin, Godwin, Marshall, Duke, Pauline, Araee, Mehdee, Mahdavian, Masoud, Asghari, Shabnam
Published in BMC medical genetics (29.11.2018)
Published in BMC medical genetics (29.11.2018)
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Journal Article
A comprehensive analysis of cancer-driving mutations and genes in kidney cancer
Long, Chengmei, Jian, Jinbo, Li, Xinchang, Wang, Gongxian, Wang, Jingen
Published in Oncology letters (01.04.2017)
Published in Oncology letters (01.04.2017)
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Journal Article
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
Hamza, Taye H, Zabetian, Cyrus P, Tenesa, Albert, Laederach, Alain, Montimurro, Jennifer, Yearout, Dora, Kay, Denise M, Doheny, Kimberly F, Paschall, Justin, Pugh, Elizabeth, Kusel, Victoria I, Collura, Randall, Roberts, John, Griffith, Alida, Samii, Ali, Scott, William K, Nutt, John, Factor, Stewart A, Payami, Haydeh
Published in Nature genetics (01.09.2010)
Published in Nature genetics (01.09.2010)
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Journal Article
Noncoding Variant in the Complement Factor H Gene and Risk of Exudative Age-Related Macular Degeneration in a Chinese Population
Cui, Lei, Zhou, Haiying, Yu, Jie, Sun, Erdan, Zhang, Yinbo, Jia, Wei, Jiao, Yiqun, Snellingen, Torkel, Liu, Xipu, Lim, Apiradee, Wang, Ningli, Liu, Ningpu
Published in Investigative ophthalmology & visual science (01.02.2010)
Published in Investigative ophthalmology & visual science (01.02.2010)
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Journal Article
Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability
Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article
708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits
Thomson, P A, Parla, J S, McRae, A F, Kramer, M, Ramakrishnan, K, Yao, J, Soares, D C, McCarthy, S, Morris, S W, Cardone, L, Cass, S, Ghiban, E, Hennah, W, Evans, K L, Rebolini, D, Millar, J K, Harris, S E, Starr, J M, MacIntyre, D J, McIntosh, A M, Watson, J D, Deary, I J, Visscher, P M, Blackwood, D H, McCombie, W R, Porteous, D J
Published in Molecular psychiatry (01.06.2014)
Published in Molecular psychiatry (01.06.2014)
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Journal Article
Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury
Usachov, Valentyn, Urban, Thomas J., Fontana, Robert J., Gross, Annika, Iyer, Sapna, Omary, M. Bishr, Strnad, Pavel
Published in BMC medicine (19.08.2015)
Published in BMC medicine (19.08.2015)
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Journal Article