Shuyue Zhang

Bei San Huan Dong Road
Beijing, 100029, China

Last Updated: 09/26/2026

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Found 16 publications

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Journal: Clinical genetics

Published: May 20, 2026

Exploratory bioinformatics analysis for identifying candidate biomarkers of type 1 diabetes mellitus.

Exploratory bioinformatics analysis for identifying candidate biomarkers of type 1 diabetes mellitus.

Journal: PeerJ

Published: December 23, 2025

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Journal: Frontiers in microbiology

Published: December 13, 2025

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

Journal: BMC medical genomics

Published: May 06, 2025

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Journal: Pediatric research

Published: May 06, 2025

First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.

First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.

Journal: Molecular biology reports

Published: November 11, 2024

CTSG polymorphisms in Chinese children with type 1 diabetes mellitus.

CTSG polymorphisms in Chinese children with type 1 diabetes mellitus.

Journal: Journal of tropical pediatrics

Published: August 09, 2024

Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

Journal: Nephrology (Carlton, Vic.)

Published: April 15, 2024

Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions.

Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions.

Journal: American journal of medical genetics. Part A

Published: March 23, 2024

Novel Genetic Variants Distinguishing Myelin Oligodendrocyte Glycoprotein-IgG-Positive From Myelin Oligodendrocyte Glycoprotein-IgG-Negative Pediatric Acute Disseminated Encephalomyelitis in Northern China.

Novel Genetic Variants Distinguishing Myelin Oligodendrocyte Glycoprotein-IgG-Positive From Myelin Oligodendrocyte Glycoprotein-IgG-Negative Pediatric Acute Disseminated Encephalomyelitis in Northern China.

Journal: Pediatric neurology

Published: October 24, 2023

Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient.

Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient.

Journal: Biochemical genetics

Published: August 14, 2023

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene.

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene.

Journal: Frontiers in pediatrics

Published: March 05, 2022

Showing 1-12 of 16

Last Updated: 09/26/2026