Yongguo G. Yu

1665 KongJiang Road
Shanghai, 200092, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 141 publications

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

Hereditary Persistence of Alpha-Fetoprotein and Safe Application of Growth Hormone in Familial Short Stature: A Case Report.

Hereditary Persistence of Alpha-Fetoprotein and Safe Application of Growth Hormone in Familial Short Stature: A Case Report.

Journal: The American journal of case reports

Published: November 16, 2025

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).

Journal: Hormone research in paediatrics

Published: October 14, 2025

A comprehensive foundation model for generalizable cytogenetics in precision oncology with CHROMA.

A comprehensive foundation model for generalizable cytogenetics in precision oncology with CHROMA.

Journal: NPJ precision oncology

Published: August 11, 2025

Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.

Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.

Journal: Genome medicine

Published: July 31, 2025

Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.

Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.

Journal: Annals of laboratory medicine

Published: July 28, 2025

Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.

Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: July 19, 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

A novel OTUD5 variant disrupts neural progenitor cell homeostasis: mechanistic insights from HEK293T cell-based analyses.

A novel OTUD5 variant disrupts neural progenitor cell homeostasis: mechanistic insights from HEK293T cell-based analyses.

Journal: Stem cell research & therapy

Published: July 01, 2025

An agentic system for rare disease diagnosis with traceable reasoning.

An agentic system for rare disease diagnosis with traceable reasoning.

Journal: Nature

Published: June 30, 2025

A cross-sectional questionnaire survey on the prevalence and risk factors of 4 major functional gastrointestinal disorders among children in Shanghai

A cross-sectional questionnaire survey on the prevalence and risk factors of 4 major functional gastrointestinal disorders among children in Shanghai

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

Published: June 15, 2025

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Journal: Journal of translational medicine

Published: March 14, 2025

Showing 1-12 of 141

Last Updated: 09/26/2026