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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
Long-Read Sequencing – A Powerful Tool in Viral Transcriptome Research
Boldogkői, Zsolt, Moldován, Norbert, Balázs, Zsolt, Snyder, Michael, Tombácz, Dóra
Published in Trends in microbiology (Regular ed.) (01.07.2019)
Published in Trends in microbiology (Regular ed.) (01.07.2019)
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Journal Article
An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis
Li, Shuyuan, Han, Xu, Zhang, Liang, Xu, Yan, Chang, Chunxin, Gao, Li, Zhan, Jiahan, Hua, Renyi, Mao, Aiping, Wang, Yanlin
Published in Clinical chemistry (Baltimore, Md.) (02.11.2023)
Published in Clinical chemistry (Baltimore, Md.) (02.11.2023)
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Journal Article
Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing–based analysis for hemophilia: experience from a hemophilia treatment center in China
Shi, Meizhen, Ma, Yunting, Peng, Xianwei, Zhou, Xu, Cheng, Zifeng, Xie, Bobo, Wei, Xianda, Gui, Chunrong, Mao, Aiping, Lin, Wenting, Luo, Jiefeng, Lai, Yinghui, Gui, Baoheng
Published in Journal of thrombosis and haemostasis (01.12.2024)
Published in Journal of thrombosis and haemostasis (01.12.2024)
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Journal Article
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
Sanford Kobayashi, Erica, Batalov, Serge, Wenger, Aaron M., Lambert, Christine, Dhillon, Harsharan, Hall, Richard J., Baybayan, Primo, Ding, Yan, Rego, Seema, Wigby, Kristen, Friedman, Jennifer, Hobbs, Charlotte, Bainbridge, Matthew N.
Published in Scientific reports (09.10.2022)
Published in Scientific reports (09.10.2022)
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Journal Article
Detecting and phasing minor single-nucleotide variants from long-read sequencing data
Feng, Zhixing, Clemente, Jose C., Wong, Brandon, Schadt, Eric E.
Published in Nature communications (24.05.2021)
Published in Nature communications (24.05.2021)
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Journal Article
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing
Claps, Aldana, Kolomenski, Jorge E., Fernández, Franco, Macchiaroli, Natalia, Ingravidi, Marina L., Delea, Marisol, Fernández, Cecilia, Castro, Tania, Laiseca, Julieta, Kamenetzky, Laura, Taboas, Melisa, Dain, Liliana
Published in Scientific reports (10.07.2025)
Published in Scientific reports (10.07.2025)
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Journal Article
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
Zhang, Ruixue, Cui, Di, Song, Chengrong, Ma, Xiaoping, Cai, Na, Zhang, Yan, Feng, Mei, Cao, Yanlin, Chen, Libao, Qiang, Rong
Published in Clinica chimica acta (01.03.2024)
Published in Clinica chimica acta (01.03.2024)
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Journal Article
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
Vaché, Christel, Faugère, Valérie, Baux, David, Mansard, Luke, Van Goethem, Charles, Dhaenens, Claire-Marie, Grunewald, Olivier, Audo, Isabelle, Zeitz, Christina, Meunier, Isabelle, Bocquet, Béatrice, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, Roux, Anne-Françoise
Published in European journal of human genetics : EJHG (01.01.2025)
Published in European journal of human genetics : EJHG (01.01.2025)
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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
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
Chen, Ximin, Zhao, Jing, Li, Danhua, Xi, Na, Yi, Danying, Yan, Mengjia, Yin, Yan, Wang, Xueyan
Published in Molecular genetics & genomic medicine (01.11.2024)
Published in Molecular genetics & genomic medicine (01.11.2024)
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Journal Article
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency
Liu, Jidong, Tian, Huihui, Jin, Xinchen, Wang, Yanxiang, Zhang, Zhenhong, Li, Mengxue, Dai, Lulu, Zhang, Xiaoli, Jiang, Ling
Published in BMC endocrine disorders (14.10.2024)
Published in BMC endocrine disorders (14.10.2024)
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Journal Article
Quantification of Allele-Specific HLA Expression with Nanopore Long-Read Sequencing
Hughes, Andrew E.O., Montgomery, Maureen C., Liu, Chang, Weimer, Eric T.
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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Journal Article
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11[beta]-hydroxylase deficiency
Liu, Jidong, Tian, Huihui, Jin, Xinchen, Wang, Yanxiang, Zhang, Zhenhong, Li, Mengxue, Dai, Lulu, Zhang, Xiaoli, Jiang, Ling
Published in BMC endocrine disorders (14.10.2024)
Published in BMC endocrine disorders (14.10.2024)
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Journal Article
Classification of Changes in the Fecal Microbiota Associated with Colonic Adenomatous Polyps Using a Long-Read Sequencing Platform
Wei, Po-Li, Hung, Ching-Sheng, Kao, Yi-Wei, Lin, Ying-Chin, Lee, Cheng-Yang, Chang, Tzu-Hao, Shia, Ben-Chang, Lin, Jung-Chun
Published in Genes (20.11.2020)
Published in Genes (20.11.2020)
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Journal Article
Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development
Berglund, Agnethe, Johannsen, Emma B., Skakkebæk, Anne, Chang, Simon, Rohayem, Julia, Laurentino, Sandra, Hørlyck, Arne, Drue, Simon O., Bak, Ebbe Norskov, Fedder, Jens, Tüttelmann, Frank, Gromoll, Jörg, Just, Jesper, Gravholt, Claus H.
Published in Biology of sex differences (08.10.2024)
Published in Biology of sex differences (08.10.2024)
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Journal Article
Evolution of bird genomes—a transposon's‐eye view
Kapusta, Aurélie, Suh, Alexander
Published in Annals of the New York Academy of Sciences (01.02.2017)
Published in Annals of the New York Academy of Sciences (01.02.2017)
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Journal Article
Nanopore Long-Read Sequencing Unveils Genomic Disruptions in Alzheimer's Disease
Ramirez, Paulino, Sun, Wenyan, Dehkordi, Shiva Kazempour, Zare, Habil, Pascarella, Giovanni, Carninci, Piero, Fongang, Bernard, Bieniek, Kevin F, Frost, Bess
Published in bioRxiv (03.03.2025)
Published in bioRxiv (03.03.2025)
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