Yongkun J. Zhan
No. 1665 Kongjiang Road
Yangpu, 200082, China
Yangpu, 200082, China
Last Updated: 09/26/2026
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Found 26 publications
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.
Journal: Stem cell research & therapy
Published: July 01, 2025
Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.
Journal: Pediatric research
Published: March 13, 2025
Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.
Journal: Orphanet journal of rare diseases
Published: March 01, 2025
OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway.
Journal: Clinical and translational medicine
Published: October 19, 2024
Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: May 22, 2024
Cation Channel TMEM63A Autonomously Facilitates Oligodendrocyte Differentiation at an Early Stage.
Journal: Neuroscience bulletin
Published: March 18, 2024
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 12, 2023
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.
Journal: Annals of neurology
Published: February 13, 2023
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.
Journal: Molecular genetics & genomic medicine
Published: July 07, 2022
Pulse Oximetry and Perfusion Index Screening for Congenital Heart Defects: A Systematic Review and Meta-analysis.
Journal: American journal of perinatology
Published: May 17, 2022
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: May 09, 2022
Last Updated: 09/26/2026