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Paternally inherited cis-regulatory structural variants are associated with autism
Brandler, William M., Antaki, Danny, Gujral, Madhusudan, Kleiber, Morgan L., Whitney, Joe, Maile, Michelle S., Hong, Oanh, Chapman, Timothy R., Tan, Shirley, Tandon, Prateek, Pang, Timothy, Tang, Shih C., Vaux, Keith K., Yang, Yan, Harrington, Eoghan, Juul, Sissel, Turner, Daniel J., Thiruvahindrapuram, Bhooma, Kaur, Gaganjot, Wang, Zhuozhi, Kingsmore, Stephen F., Gleeson, Joseph G., Bisson, Denis, Kakaradov, Boyko, Telenti, Amalio, Venter, J. Craig, Corominas, Roser, Toma, Claudio, Cormand, Bru, Rueda, Isabel, Guijarro, Silvina, Messer, Karen S., Nievergelt, Caroline M., Arranz, Maria J., Courchesne, Eric, Pierce, Karen, Muotri, Alysson R., Iakoucheva, Lilia M., Hervas, Amaia, Scherer, Stephen W., Corsello, Christina, Sebat, Jonathan
Published in Science (American Association for the Advancement of Science) (20.04.2018)
Published in Science (American Association for the Advancement of Science) (20.04.2018)
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Journal Article
Beyond GWAS: Investigating Structural Variants and Their Segregation in Familial Alzheimer’s Disease
Gunasekaran, Tamil Iniyan, Reyes‐Dumeyer, Dolly, Corvelo, André, Clarke, Wayne E., Evani, Uday S., Byrska‐Bishop, Marta S., Basile, Anna O., Runnels, Alexi, Musunuri, Rajeeva O., Narzisi, Giuseppe, Faber, Kelley M., Goate, Alison M., Boeve, Brad F., Cruchaga, Carlos, Pericak‐Vance, Margaret A., Haines, Jonathan L., Rosenberg, Roger N, Tsuang, Debby W, Mejia, Diones Rivera, Medrano, Martin, Lantigua, Rafael A., Sweet, Robert, Bennett, David A., Wilson, Robert S., Foroud, Tatiana M., Dalgard, Clifton L., Mayeux, Richard, Zody, Michael, Vardarajan, Badri N
Published in Alzheimer's & dementia (01.12.2024)
Published in Alzheimer's & dementia (01.12.2024)
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Journal Article
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing
de la Morena-Barrio, Belén, Palomo, Ángeles, Padilla, José, Martín-Fernández, Laura, Rojo-Carrillo, Juan José, Cifuentes, Rosa, Bravo-Pérez, Carlos, Garrido-Rodríguez, Pedro, Miñano, Antonia, Rubio, Ana María, Pagán, Javier, Llamas, María, Vicente, Vicente, Vidal, Francisco, Lozano, María Luisa, Corral, Javier, de la Morena-Barrio, María Eugenia
Published in Journal of thrombosis and haemostasis (01.07.2023)
Published in Journal of thrombosis and haemostasis (01.07.2023)
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Journal Article
CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome
Piras, Rossella, Valoti, Elisabetta, Alberti, Marta, Bresin, Elena, Mele, Caterina, Breno, Matteo, Liguori, Lucia, Donadelli, Roberta, Rigoldi, Miriam, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
Published in Frontiers in immunology (30.01.2023)
Published in Frontiers in immunology (30.01.2023)
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Journal Article
Third-generation genome sequencing implicates medium-sized structural variants in chronic schizophrenia
Lee, Chi Chiu, Ye, Rui, Tubbs, Justin D., Baum, Larry, Zhong, Yuanxin, Leung, Shuk Yan Joey, Chan, Sheung Chun, Wu, Kit Ying Kitty, Cheng, Po Kwan Jamie, Chow, Lai Ping, Leung, Patrick W. L., Sham, Pak Chung
Published in Frontiers in neuroscience (11.01.2023)
Published in Frontiers in neuroscience (11.01.2023)
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Journal Article
Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry
Prakash, Siddharth K., Bondy, Carolyn A., Maslen, Cheryl L., Silberbach, Michael, Lin, Angela E., Perrone, Laura, Limongelli, Giuseppe, Michelena, Hector I., Bossone, Eduardo, Citro, Rodolfo, Lemaire, Scott A., Body, Simon C., Milewicz, Dianna M.
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
Breast cancer associated germline structural variants harboring small noncoding RNAs impact post-transcriptional gene regulation
Kumaran, Mahalakshmi, Krishnan, Preethi, Cass, Carol E., Hubaux, Roland, Lam, Wan, Yasui, Yutaka, Damaraju, Sambasivarao
Published in Scientific reports (14.05.2018)
Published in Scientific reports (14.05.2018)
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Journal Article
Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients
Lin, Peng-Chan, Chen, Hui-O, Lee, Chih-Jung, Yeh, Yu-Min, Shen, Meng-Ru, Chiang, Jung-Hsien
Published in Human genomics (11.01.2021)
Published in Human genomics (11.01.2021)
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Journal Article
Abstract 2416: Personalized minimal residual disease detection using tumor-derived structural variants in cell-free DNA
McDonald, Bradon R., Dennison, Kirsten L., Schussman, Amanda L., McGregor, Stephanie M., Pockaj, Barbara A., Murtaza, Muhammed
Published in Cancer research (Chicago, Ill.) (22.03.2024)
Published in Cancer research (Chicago, Ill.) (22.03.2024)
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Journal Article
Effects of molecular structural variants on serum Krebs von den Lungen-6 levels in sarcoidosis
Shigemura, Masahiko, Nasuhara, Yasuyuki, Konno, Satoshi, Shimizu, Chikara, Matsuno, Kazuhiko, Yamaguchi, Etsuro, Nishimura, Masaharu
Published in Journal of translational medicine (31.05.2012)
Published in Journal of translational medicine (31.05.2012)
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Journal Article
Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel
Gerdol, Marco, Moreira, Rebeca, Cruz, Fernando, Gómez-Garrido, Jessica, Vlasova, Anna, Rosani, Umberto, Venier, Paola, Naranjo-Ortiz, Miguel A., Murgarella, Maria, Greco, Samuele, Balseiro, Pablo, Corvelo, André, Frias, Leonor, Gut, Marta, Gabaldón, Toni, Pallavicini, Alberto, Canchaya, Carlos, Novoa, Beatriz, Alioto, Tyler S., Posada, David, Figueras, Antonio
Published in Genome Biology (10.11.2020)
Published in Genome Biology (10.11.2020)
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Journal Article
The Evolution and expression analysis of USP gene family in Solanum
Xu, Ruiqiang, Wang, Zhongyu, Chen, Zhaolong, Wang, Zepeng, Meng, Qingyuan, Li, Ning, Qin, Yong
Published in Frontiers in plant science (30.06.2025)
Published in Frontiers in plant science (30.06.2025)
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Journal Article
Genomic structural variations link multiple genes to bone mineral density in a multi-ethnic cohort study: Louisiana osteoporosis study
Su, Kuan-Jui, Qiu, Chuan, Greenbaum, Jonathan, Zhang, Xiao, Liu, Anqi, Liu, Yong, Luo, Zhe, Mungasavalli Gnanesh, Shashank Sajjan, Tian, Qing, Zhao, Lan-Juan, Shen, Hui, Deng, Hong-Wen
Published in Journal of bone and mineral research (26.09.2024)
Published in Journal of bone and mineral research (26.09.2024)
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Journal Article
The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing
Ning, Sisi, Qin, Yunrong, Liang, Yunning, Liang, Yi, Xie, Yuling, Lu, Yinghong, Wei, Guanghong, Xu, Ruofan, Liu, Yinyin, Li, Jihui
Published in Gene (30.07.2023)
Published in Gene (30.07.2023)
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Journal Article
Recent Advances in Pathology: the 2023 Annual Review Issue of The Journal of Pathology
Jones, J Louise, Poulsom, Richard, Coates, Philip J
Published in The Journal of pathology (01.08.2023)
Published in The Journal of pathology (01.08.2023)
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Journal Article