Wanli Meng

Beijing, 102200, China

Last Updated: 09/26/2026

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Found 11 publications

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: September 09, 2024

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

Journal: Human genomics

Published: August 22, 2024

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.

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: Journal of translational medicine

Published: July 22, 2024

Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy.

Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy.

Journal: Human genomics

Published: July 10, 2024

A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.

A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 13, 2023

Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.

Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: September 05, 2023

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 14, 2023

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.

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.

Journal: Frontiers in genetics

Published: February 01, 2023

Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing.

Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing.

Journal: Blood cells, molecules & diseases

Published: December 05, 2022

Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.

Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.

Journal: Clinical biochemistry

Published: August 16, 2022

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.

Journal: Clinical chemistry

Published: May 24, 2022

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Last Updated: 09/26/2026