Thông tin nhà nghiên cứu KH&CN

Mã NNC: CB.1492725

TSKH Aiping Mao

Cơ quan/đơn vị công tác: Bộ gen quả mọng

Lĩnh vực nghiên cứu:

Danh sách các Bài báo/Công bố KH&CN
Danh sách các Nhiệm vụ KH&CN đã tham gia

[1]	Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing. Li S, Han X, Xu Y, Chang C, Gao L, Li J, Lu Y, Mao A, Wang Y. ELSEVIER - Năm xuất bản: 2022; ISSN/ISBN:
[2]	Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing. Liang Q, Liu Y, Liu Y, Duan R, Meng W, Zhan J, Xia J, Mao A, Liang D, Wu L. OXFORD - Năm xuất bản: 2022; ISSN/ISBN:
[3]	Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing. Liu Y, Li D, Yu D, Liang Q, Chen G, Li F, Gao L, Li Z, Xie T, Wu L, Mao A, Wu L, Liang D. Thieme - Năm xuất bản: 2023; ISSN/ISBN:
[4]	An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis. Li S, Han X, Zhang L, Xu Y, Chang C, Gao L, Zhan J, Hua R, Mao A, Wang Y. OXFORD - Năm xuất bản: 2023; ISSN/ISBN:
[5]	A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy. Bai J, Qu Y, Huang W, Meng W, Zhan J, Wang H, Hou W, Jin Y, Mao A, Song F. ELSEVIER - Năm xuất bản: 2023; ISSN/ISBN:
[6]	Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome. Hou F, Mao A, Shan S, Li Y, Meng W, Zhan J, Nie W, Jin H. ELSEVIER - Năm xuất bản: 2023; ISSN/ISBN:
[7]	Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease. Xu D, Mao A, Chen L, Wu L, Ma Y, Mei C. Clin Chem. 2024 Jun 3;70(6):841-854. doi: 10.1093/clinchem/hvae030. OXFORD - Năm xuất bản: 2024; ISSN/ISBN:
[8]	Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing. Yuan D, Cai R, Mao A, Tan J, Zhong Q, Zeng D, Tang N, Wei X, Huang J, Zhang Y, Chen D, Yang J, Li Y, Zheng X, Li J, Li D, Yan T. ELSEVIER - Năm xuất bản: 2024; ISSN/ISBN:
[9]	Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing. Ye Y, Niu C, Mao A, Qin L, Zhan J, Chen W, Liu Z, Xie T, Zhang Q, Li J, Huang L, Meng W, Liu Y, Liao L, Cai J, Liu R, Zhang X, Zeng L, Li Y, Lin B, Li K, Hua X, Huang B, Qin H, Huang Y, Huang Z, Lao J, Qu X, Chen J, Feng X, Liu Q, Lin W, Zhou X, Liang Y, Long X, Qin J, Yan L, Zhu W, Yu L, Fan C, Tang D, Zhong T, Tan J, Ren Z, Xu X. WILEY - Năm xuất bản: 2025; ISSN/ISBN:
[10]	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. Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y. BMC (BioMedCentral) - Năm xuất bản: 2025; ISSN/ISBN:
[11]	A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy. Bai J, Qu Y, Huang W, Meng W, Zhan J, Wang H, Hou W, Jin Y, Mao A, Song F. ELSEVIER - Năm xuất bản: 2023; ISSN/ISBN: 1873-3492
[12]	An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis. Li S, Han X, Zhang L, Xu Y, Chang C, Gao L, Zhan J, Hua R, Mao A, Wang Y. OXFORD - Năm xuất bản: 2023; ISSN/ISBN: 0009-9147
[13]	Comprehensive Analysis of Fragile X Syndrome: Full C-haracterization of the FMR1 Locus by Long-Read Sequencing. Liang Q, Liu Y, Liu Y, Duan R, Meng W, Zhan J, Xia J, Mao A, Liang D, Wu L. OXFORD - Năm xuất bản: 2022; ISSN/ISBN: 0009-9147
[14]	Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full C-haracterization of the F8 Gene Variants by Long-Read Sequencing. Liu Y, Li D, Yu D, Liang Q, Chen G, Li F, Gao L, Li Z, Xie T, Wu L, Mao A, Wu L, Liang D. Thieme - Năm xuất bản: 2023; ISSN/ISBN: 1538-7836
[15]	Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease. Xu D, Mao A, Chen L, Wu L, Ma Y, Mei C. Clin Chem. 2024 Jun 3;70(6):841-854. doi: 10.1093/clinchem/hvae030. OXFORD - Năm xuất bản: 2024; ISSN/ISBN: 0009-9147
[16]	Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing. Li S, Han X, Xu Y, Chang C, Gao L, Li J, Lu Y, Mao A, Wang Y. ELSEVIER - Năm xuất bản: 2022; ISSN/ISBN: 1525-1578
[17]	Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome. Hou F, Mao A, Shan S, Li Y, Meng W, Zhan J, Nie W, Jin H. ELSEVIER - Năm xuất bản: 2023; ISSN/ISBN: 1873-3492
[18]	Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing. Ye Y, Niu C, Mao A, Qin L, Zhan J, Chen W, Liu Z, Xie T, Zhang Q, Li J, Huang L, Meng W, Liu Y, Liao L, Cai J, Liu R, Zhang X, Zeng L, Li Y, Lin B, Li K, Hua X, Huang B, Qin H, Huang Y, Huang Z, Lao J, Qu X, Chen J, Feng X, Liu Q, Lin W, Zhou X, Liang Y, Long X, Qin J, Yan L, Zhu W, Yu L, Fan C, Tang D, Zhong T, Tan J, Ren Z, Xu X. WILEY - Năm xuất bản: 2025; ISSN/ISBN: 2198-3844
[19]	Improved Genetic C-haracterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing. Yuan D, Cai R, Mao A, Tan J, Zhong Q, Zeng D, Tang N, Wei X, Huang J, Zhang Y, Chen D, Yang J, Li Y, Zheng X, Li J, Li D, Yan T. ELSEVIER - Năm xuất bản: 2024; ISSN/ISBN: 1525-1578
[20]	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. Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y. BMC (BioMedCentral) - Năm xuất bản: 2025; ISSN/ISBN: 1479-5876