Concepedia

Matteo Di Scipio

MD

Statistics

Publications

7

Citations

184

H-Index

7

Active since

2018

Affiliations

University of Toronto(Current)

McMaster University

Hospital for Sick Children

SickKids Foundation

Hamilton Health Sciences

Matteo Di Scipio is an author at University of Toronto specializing in bioinformatics, medicine, and biostatistics.

ORCID

Top concepts

Publications per year

2018–2024

7

Publications

7

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Anjali Vig, James A. Poulter, Erika Tavares et al. · Genetics in Medicine · 2020 · 51 citations · Full text

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

Alice Man, Matteo Di Scipio, Shan Grewal et al. · Genes · 2024 · 34 citations · Full text

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

Matteo Di Scipio, Erika Tavares, Shriya Deshmukh et al. · Investigative Ophthalmology & Visual Science · 2020 · 25 citations · Full text

Comparative Natural History of Visual Function From Patients With Biallelic Variants in<i>BBS1</i>and<i>BBS10</i>

Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack et al. · Investigative Ophthalmology & Visual Science · 2021 · 23 citations · Full text

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

Matteo Di Scipio, Mohammad Daud Khan, Shihong Mao et al. · Nature Communications · 2023 · 19 citations · Full text

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