Gregory Costain

32PUBLICATIONS
223CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Genomics
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Publications (32)

|Feb 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham

|Jan 14, 2026
A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.

Ziyi Dai, Gregory Costain

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Oct 06, 2025
Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.

Amy Y Pan, Kenzie Pulsifer, Michelle M Axford

|Aug 10, 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.

Kaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie

|Jul 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

Harsha Murthy, Ny Hoang, Jamie C Stark

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Frequent Collaborators

4 joint publications

John Christodoulou

4 joint publications

Anna Szuto

3 joint publications

Nancy J Butcher

3 joint publications

James J Dowling