Gregory A. Costain

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 147 publications

First-Line Genetic Testing in Patients with Cleft Palate Only: The Role of Chromosomal Microarray Analysis.

First-Line Genetic Testing in Patients with Cleft Palate Only: The Role of Chromosomal Microarray Analysis.

Journal: Plastic and reconstructive surgery

Published: August 05, 2026

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Journal: JAMA neurology

Published: May 04, 2026

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Journal: Neurogenetics

Published: April 27, 2026

Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.

Correction: The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

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

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Journal: NPJ genomic medicine

Published: December 27, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

Journal: Epilepsia

Published: October 24, 2025

A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.

A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.

Journal: Genetics

Published: October 07, 2025

Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.

Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.

Journal: Genome medicine

Published: September 24, 2025

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

Journal: BMJ open

Published: August 10, 2025

Interventional genomics: Bridging germline diagnosis and therapeutic action.

Interventional genomics: Bridging germline diagnosis and therapeutic action.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 30, 2025

Showing 1-12 of 147

Last Updated: 09/26/2026