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Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease
Daida, Kensuke, Funayama, Manabu, Billingsley, Kimberley J., Malik, Laksh, Miano‐Burkhardt, Abigail, Leonard, Hampton L., Makarious, Mary B., Iwaki, Hirotaka, Ding, Jinhui, Gibbs, J. Raphael, Ishiguro, Mayu, Yoshino, Hiroyo, Ogaki, Kotaro, Oyama, Genko, Nishioka, Kenya, Nonaka, Risa, Akamatsu, Wado, Blauwendraat, Cornelis, Hattori, Nobutaka
Published in Movement disorders (01.12.2023)
Published in Movement disorders (01.12.2023)
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Journal Article
ConsensuSV-ONT – A modern method for accurate structural variant calling
Pietryga, Antoni, Chiliński, Mateusz, Gadakh, Sachin, Plewczynski, Dariusz
Published in Scientific reports (17.05.2025)
Published in Scientific reports (17.05.2025)
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Journal Article
ConsensuSV-ONT - a modern method for accurate structural variant calling
Pietryga, Antoni, Chilinski, Mateusz, Gadakh, Sachin, Plewczynski, Dariusz
Published in bioRxiv (26.07.2024)
Published in bioRxiv (26.07.2024)
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Journal Article
Paper
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Zhang, Chaofan, Mazzeu, Juliana F., Eisfeldt, Jesper, Grochowski, Christopher M., White, Janson, Akdemir, Zeynep C., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lindstrand, Anna, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M. B.
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Identification of a new structural variant of human apolipoprotein E, E2(Lys146 leads to Gln), in a type III hyperlipoproteinemic subject with the E3/2 phenotype
Rall, S C, Weisgraber, K H, Innerarity, T L, Bersot, T P, Mahley, R W, Blum, C B
Published in The Journal of clinical investigation (01.10.1983)
Published in The Journal of clinical investigation (01.10.1983)
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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
β -Thalassemia Present in cis to a New β -Chain Structural Variant, Hb Vicksburg [β 75(E19)Leu→ 0]
Adams, Junius G., Steinberg, Martin H., Newman, Marsha V., Morrison, W. Tully, Benz, Edward J., Iyer, Rathi
Published in Proceedings of the National Academy of Sciences - PNAS (01.01.1981)
Published in Proceedings of the National Academy of Sciences - PNAS (01.01.1981)
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Journal Article
Identification of a new structural variant of human apolipoprotein E, E2(Lys sub(146) arrow right Gln), in a type III hyperlipoproteinemic subject with the E3/2 phenotype
Rall, S C, Weisgraber, KH, Innerarity, T L, Bersot, T P, Mahley, R W, Blum, C B
Published in The Journal of clinical investigation (01.01.1983)
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Published in The Journal of clinical investigation (01.01.1983)
Journal Article
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
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
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