Wenjuan J. Qiu

1665 KongJiang Road
Shanghai, 200092, China

Last Updated: 09/26/2026

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Found 147 publications

Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training

Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 01, 2026

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Journal: Prenatal diagnosis

Published: March 18, 2026

Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study.

Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study.

Journal: Molecular genetics and metabolism

Published: November 11, 2025

Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency.

Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency.

Journal: World journal of pediatrics : WJP

Published: November 05, 2025

Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: August 20, 2025

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Journal: Orphanet journal of rare diseases

Published: August 05, 2025

Effectiveness, safety, and pharmacokinetics of burosumab in Chinese children with X-linked hypophosphatemia: an open-label, single-arm phase 4 study.

Effectiveness, safety, and pharmacokinetics of burosumab in Chinese children with X-linked hypophosphatemia: an open-label, single-arm phase 4 study.

Journal: JBMR plus

Published: July 31, 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

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Journal: Human molecular genetics

Published: July 07, 2025

Juvenile gigantomastia with pseudo angiomatous stromal hyperplasia in a 12-year-old female: A case report.

Juvenile gigantomastia with pseudo angiomatous stromal hyperplasia in a 12-year-old female: A case report.

Journal: Journal of pediatric and adolescent gynecology

Published: May 20, 2025

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Journal: Orphanet journal of rare diseases

Published: April 22, 2025

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Journal: Orphanet journal of rare diseases

Published: April 16, 2025

Showing 1-12 of 147

Last Updated: 09/26/2026