Yu Peng

86 Ziyuan Road
Changsha, China

Last Updated: 09/26/2026

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Found 23 publications

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

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Journal: Human molecular genetics

Published: March 09, 2025

Visual prediction models for predicting rebleeding events after the first esophageal variceal ligation.

Visual prediction models for predicting rebleeding events after the first esophageal variceal ligation.

Journal: Surgical endoscopy

Published: December 03, 2024

Genetic analysis of novel pathogenic gene HROB in a family with primary ovarian insufficiency.

Genetic analysis of novel pathogenic gene HROB in a family with primary ovarian insufficiency.

Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Published: December 18, 2023

TRIM21 is critical in regulating hepatocellular carcinoma growth and response to therapy by altering the MST1/YAP pathway.

TRIM21 is critical in regulating hepatocellular carcinoma growth and response to therapy by altering the MST1/YAP pathway.

Journal: Cancer science

Published: September 22, 2023

Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations.

Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations.

Journal: Frontiers in neuroscience

Published: October 21, 2022

Hyperosmolar Potassium Inhibits Corneal Myofibroblast Transformation and Prevent Corneal Scar.

Hyperosmolar Potassium Inhibits Corneal Myofibroblast Transformation and Prevent Corneal Scar.

Journal: Current eye research

Published: September 23, 2022

Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.

Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.

Journal: Molecular genetics & genomic medicine

Published: August 23, 2022

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.

Journal: Frontiers in pediatrics

Published: April 26, 2022

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea.

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea.

Journal: Frontiers in genetics

Published: February 10, 2022

A Risk Model Developed Based on Necroptosis Predicts Overall Survival for Hepatocellular Carcinoma and Identification of Possible Therapeutic Drugs.

A Risk Model Developed Based on Necroptosis Predicts Overall Survival for Hepatocellular Carcinoma and Identification of Possible Therapeutic Drugs.

Journal: Frontiers in immunology

Published: February 07, 2022

Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia.

Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia.

Journal: Frontiers in genetics

Published: January 31, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026