Chumei C. Li
Hamilton, ON, Canada
Last Updated: 09/26/2026
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Found 35 publications
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Biallelic SCN1A variants with divergent epilepsy phenotypes.
Journal: Seizure
Published: November 19, 2024
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Journal: American journal of human genetics
Published: July 22, 2024
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 19, 2024
Male-female phenotype correlation and dissociation related to mutations in the ARX gene.
Journal: Journal of medical genetics
Published: March 09, 2024
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Journal: Science advances
Published: May 01, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
Correspondence: Perspectives on the future of dysmorphology.
Journal: American journal of medical genetics. Part A
Published: March 16, 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Journal: Clinical genetics
Published: September 25, 2022
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Journal: Brain : a journal of neurology
Published: August 26, 2022
Last Updated: 09/26/2026