Aiping Mao

Peking University — China

Medicine · Health Sciences

26h-index3.2kcitations75works2.42yr avg
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Research Topics

Hemoglobinopathies and Related Disorders(22), Iron Metabolism and Disorders(13), Prenatal Screening and Diagnostics(12), interferon and immune responses(9), Genomics and Rare Diseases(7)

Publications75 total

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns
Genome Medicine·2025Open Access
Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai
Human Genomics·2025Open Access
Qualitative phenomenological exploration of lived experiences and perspectives of Chinese hospital administrators engaged in medical dispute management
Scientific Reports·2025Open Access
A More Clinically Effective Long-Read Sequencing–Based Approach for Comprehensive Analysis of Spinal Muscular Atrophy
Journal of Molecular Diagnostics·2025· 1 cited
Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients
Journal of Ovarian Research·2025Open Access
Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing
Annals of Hematology·2025Open Access
Improving primary students’ computational thinking through cross-curricular teaching: a design-based implementation research in mathematics and programming education
Asia Pacific Journal of Education·2025
Long-read sequencing for <i>NF1</i> gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1
Human Molecular Genetics·2025
A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal)
Journal of Assisted Reproduction and Genetics·2025· 1 citedOpen Access
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type <scp>II</scp>
Journal of Inherited Metabolic Disease·2025
Corrigendum to ‘Clinical validation and application of targeted long-range PCR and long-read sequencing-based analysis for haemophilia: experience from a haemophilia treatment centre in China’
Journal of Thrombosis and Haemostasis·2025Open Access
Phenotypic screening identified polydatin alleviating cartilage degeneration by modulating SIRT3-dependent mitochondrial dysfunction
Phytomedicine·2025· 2 cited
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis
npj Genomic Medicine·2025· 2 citedOpen Access
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
Journal of Translational Medicine·2025· 5 citedOpen Access
Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing (Adv. Sci. 9/2025)
Advanced Science·2025Open Access
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands
Human Genomics·2025· 7 citedOpen Access
Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing
Advanced Science·2024· 2 citedOpen Access
Comprehensive Analysis of the NF1 gene Using Long-Read Sequencing Improved Neurofibromatosis type 1 Molecular Diagnosis
2024Open Access
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease
Human Genomics·2024· 8 citedOpen Access
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis in an assisted reproductive center
2024Open Access
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Frequent Co-authors

Hong‐Bing Shu(8), Wanli Meng(6), Albert Bendelac(5), Ruofan Xu(5), Bo Zhong(4), Yan‐Yi Wang(4), Zhixiang Zuo(4), Yong Ran(4), Desheng Liang(4), Lingqian Wu(4), Tizhen Yan(4), Jiahan Zhan(4), Jun Shen(3), Chao Li(3), Shu Li(3), Ying Li(3), Michael G. Constantinides(3), Rebecca Mathew(3), Yingdi Liu(3), Dingyuan Zeng(3)