Di Cui

Beijing, 102200, China

Last Updated: 09/26/2026

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Found 9 publications

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Journal: Human genomics

Published: October 14, 2025

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Journal: Genome medicine

Published: July 31, 2025

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients.

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients.

Journal: Journal of ovarian research

Published: June 26, 2025

Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.

Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.

Journal: Annals of hematology

Published: March 04, 2025

Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

Journal: Annals of hematology

Published: November 07, 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

Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.

Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 13, 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: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results.

Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results.

Journal: Frontiers in medicine

Published: March 23, 2023

Showing 1-9 of 9

Last Updated: 09/26/2026