Edward J. Higginbotham

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 16 publications

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Journal: Neurology
Published: February 13, 2026

Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.

Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.

Journal: NPJ genomic medicine
Published: December 24, 2025

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.

Journal: Clinical genetics
Published: October 03, 2025

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.

Journal: Genome research
Published: March 04, 2024

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

Journal: The Lancet. Neurology
Published: April 29, 2023

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Journal: Human molecular genetics
Published: March 09, 2023

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Journal: Nature genetics
Published: December 23, 2022

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

Journal: Human genetics
Published: May 26, 2022

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Journal: Cell
Published: May 05, 2022

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Journal: Translational psychiatry
Published: February 14, 2022

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Journal: NPJ genomic medicine
Published: January 04, 2021

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.

Journal: NPJ genomic medicine
Published: December 21, 2019
Showing 1-12 of 16

Last Updated: 09/26/2026