Works matching AU Mao, Aiping
Results: 20
Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing (Adv. Sci. 9/2025).
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- Advanced Science, 2025, v. 12, n. 9, p. 1, doi. 10.1002/advs.202570053
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- Article
Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing.
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- Advanced Science, 2025, v. 12, n. 9, p. 1, doi. 10.1002/advs.202410992
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- Article
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.
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- NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00477-5
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- Article
Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.
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- Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06345-1
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- Article
Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.
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- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 7, p. 797, doi. 10.5858/arpa.2022-0168-OA
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Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2365
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Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.
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- Hematology, 2022, v. 27, n. 1, p. 1305, doi. 10.1080/16078454.2022.2156720
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The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
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- Hemoglobin, 2024, v. 48, n. 6, p. 384, doi. 10.1080/03630269.2024.2442641
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Analysis of rare thalassemia genetic variants based on third-generation sequencing.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14038-8
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- Article
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.
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- Clinical Chemistry, 2024, v. 70, n. 6, p. 841, doi. 10.1093/clinchem/hvae030
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An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.
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- Clinical Chemistry, 2023, v. 69, n. 11, p. 1295, doi. 10.1093/clinchem/hvad152
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Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
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- Clinical Chemistry, 2023, v. 69, n. 3, p. 239, doi. 10.1093/clinchem/hvac200
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- Article
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
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- Clinical Chemistry, 2022, v. 68, n. 12, p. 1529, doi. 10.1093/clinchem/hvac154
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Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
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- Clinical Chemistry, 2022, v. 68, n. 7, p. 927, doi. 10.1093/clinchem/hvac046
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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
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- Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-024-00696-4
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Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00697-3
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Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.
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- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 3, p. 509, doi. 10.1007/s10815-020-01702-z
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Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1156071
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- Article
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.
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- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 2, p. 406, doi. 10.1210/clinem/dgae519
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High-yield Cultivation Techniques for Indica Hybrid Rice Z You 272 Grown as Middle-season rice + Ratooning Rice.
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- Agricultural Science & Technology, 2015, v. 16, n. 5, p. 883
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- Article