Shuangyue Ma

Sir Run Run Shaw Hospital
Hangzhou, China

Last Updated: 09/26/2026

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Found 10 publications

A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.

A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: January 25, 2026

Author Correction: Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Author Correction: Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Journal: Nature

Published: October 10, 2025

Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.

Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: September 18, 2025

IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses.

IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses.

Journal: Nature communications

Published: September 05, 2025

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution.

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution.

Journal: The Journal of allergy and clinical immunology

Published: June 26, 2025

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.

Journal: The Journal of allergy and clinical immunology

Published: June 26, 2025

A novel homozygous ISG15 missense variant leads to severe inflammatory skin lesions, interstitial pneumonia, and basal ganglia calcifications in a Chinese infant with ISG15 deficiency.

A novel homozygous ISG15 missense variant leads to severe inflammatory skin lesions, interstitial pneumonia, and basal ganglia calcifications in a Chinese infant with ISG15 deficiency.

Journal: Gene

Published: March 09, 2025

DNA methylation heterogeneity in complex tumor microenvironment: Quantitative methods, influencing factors, and clinical implications.

DNA methylation heterogeneity in complex tumor microenvironment: Quantitative methods, influencing factors, and clinical implications.

Journal: Genes & diseases

Published: November 20, 2024

Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.

Journal: Nature

Published: September 17, 2024

DNA methylation heterogeneity attributable to a complex tumor immune microenvironment prompts prognostic risk in glioma.

DNA methylation heterogeneity attributable to a complex tumor immune microenvironment prompts prognostic risk in glioma.

Journal: Epigenetics

Published: March 05, 2024

Showing 1-10 of 10

Last Updated: 09/26/2026