Jeffrey R. Macdonald

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 29 publications

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Journal: Research square

Published: December 08, 2025

Determinants of pleiotropy and monotonic gene dosage responses across human traits.

Determinants of pleiotropy and monotonic gene dosage responses across human traits.

Journal: Research square

Published: December 03, 2025

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Journal: bioRxiv : the preprint server for biology

Published: November 26, 2025

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

Gene dosage architecture across complex traits.

Gene dosage architecture across complex traits.

Journal: medRxiv : the preprint server for health sciences

Published: March 10, 2025

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Journal: Nature

Published: December 10, 2024

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

Journal: medRxiv : the preprint server for health sciences

Published: January 18, 2024

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Journal: American journal of human genetics

Published: December 07, 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

Showing 1-12 of 29

Last Updated: 09/26/2026