Ruen E. Yao

No. 1678 Dongfang Road
Dongfang, 200127, China

Last Updated: 09/26/2026

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Found 71 publications

Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene

Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene

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

Published: June 24, 2026

A follow-up cohort study on secondary findings in cancer predisposition genes from 20,205 Chinese individuals.

A follow-up cohort study on secondary findings in cancer predisposition genes from 20,205 Chinese individuals.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 16, 2026

Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.

Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.

Journal: World journal of pediatrics : WJP

Published: March 06, 2026

TOP3A pathogenic variants presenting as dilated cardiomyopathy and heart failure in three pediatric cases.

TOP3A pathogenic variants presenting as dilated cardiomyopathy and heart failure in three pediatric cases.

Journal: BMC pediatrics

Published: February 12, 2026

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.

Journal: Orphanet journal of rare diseases

Published: September 13, 2025

Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex Diseases.

Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex Diseases.

Journal: International journal of genomics

Published: August 11, 2025

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Journal: Clinical chemistry

Published: July 14, 2025

Clinical phenotype and genetic analysis of four cases of Epileptic encephalopathy caused by PCDH19 mutations

Clinical phenotype and genetic analysis of four cases of Epileptic encephalopathy caused by PCDH19 mutations

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

Published: July 07, 2025

Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.

Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.

Journal: Biomedicines

Published: July 01, 2025

Novel variants in ZNF462 and phenotype update in patients with Weiss-Kruszka syndrome: a case series.

Novel variants in ZNF462 and phenotype update in patients with Weiss-Kruszka syndrome: a case series.

Journal: Translational pediatrics

Published: April 21, 2025

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Journal: Translational pediatrics

Published: April 03, 2025

Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Journal: BMC pediatrics

Published: February 01, 2025

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Last Updated: 09/26/2026