Matteo Di Scipio

1280 Main Street West
Hamilton, ON L8S4K1, Canada

Last Updated: 09/26/2026

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Found 16 publications

Identification of effect modifiers using a stratified Mendelian randomization algorithmic framework.

Identification of effect modifiers using a stratified Mendelian randomization algorithmic framework.

Journal: European journal of epidemiology
Published: October 29, 2024

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.

Journal: Pediatric neurology
Published: July 25, 2024

Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.

Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.

Journal: American journal of medical genetics. Part A
Published: May 01, 2024

What Causes Premature Coronary Artery Disease?

What Causes Premature Coronary Artery Disease?

Journal: Current atherosclerosis reports
Published: March 22, 2024

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

Journal: Genes
Published: February 12, 2024

Genetic Determinants of Vascular Dementia.

Genetic Determinants of Vascular Dementia.

Journal: The Canadian journal of cardiology
Published: February 05, 2024

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.

Journal: JCI insight
Published: December 21, 2023

A method to estimate the contribution of rare coding variants to complex trait heritability.

A method to estimate the contribution of rare coding variants to complex trait heritability.

Journal: Nature communications
Published: October 28, 2022

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.

Journal: Clinical genetics
Published: May 07, 2022

A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets.

A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets.

Journal: Nature communications
Published: April 23, 2021

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.

Journal: Investigative ophthalmology & visual science
Published: September 04, 2020

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

Journal: Ophthalmic genetics
Published: July 22, 2020
Showing 1-12 of 16

Last Updated: 09/26/2026