Yu Ma - Publications

Expanding the ABCA2-associated neurodevelopmental phenotype.

Journal: HGG advances

Published: February 19, 2026

Analysis on Intraoperative Electrocorticogram Characteristics for Evaluating the Risk of Postoperative Epilepsy.

Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Published: December 12, 2023

De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders.

Journal: Genes & diseases

Published: November 29, 2023

Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.

Journal: Life sciences

Published: October 08, 2023

Metabolomics of cerebrospinal fluid reveals prognostic biomarkers in pediatric status epilepticus.

Journal: CNS neuroscience & therapeutics

Published: November 29, 2022

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Journal: Genes

Published: July 20, 2022

Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China.

Journal: Frontiers in psychiatry

Published: February 28, 2022

High genetic burden in 163 Chinese children with status epilepticus.

Journal: Seizure

Published: June 21, 2020