Faculty profile

Matteo DiScipio

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nullMcMaster University

Matteo DiScipio

null

Faculty of Health Sciences

McMaster University

Hamilton, Ontario, Canada

Email ORCID

Supervision signals

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No graduate courses on record.
9 publications in the last five years, latest in 2025.

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Academic metrics

Publications

348

Citations

h-index

Collaborators

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

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Contact

discipim@mcmaster.ca

Research

Research areas, by share of publications

Genetic Associations and EpidemiologyBiochemistry, Genetics and Molecular Biology
Retinal Development and DisordersBiochemistry, Genetics and Molecular Biology
Genomics and Rare DiseasesBiochemistry, Genetics and Molecular Biology

Research areas are derived from OpenAlex topics of their publications.

17 publications.

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

Man A, Di Scipio M, McConkey H, Hough R, Stein N, Diehl E, Marshall CR, Sadikovic B, Ejaz R

American Journal of Medical Genetics, Part A20253 citations

DOI: 10.1002/ajmg.a.63864

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

Man A, Di Scipio M, Grewal S, Suk Y, Trinari E, Ejaz R, Whitney R

Genes202450 citationsOpen Access

DOI: 10.3390/genes15030332 PMID: W4392376509

What Causes Premature Coronary Artery Disease?

Le A, Peng H, Golinsky D, Di Scipio M, Lali R, Paré G

Current Atherosclerosis Reports202428 citations

DOI: 10.1007/s11883-024-01200-y

Genetic Determinants of Vascular Dementia

Pathan N, Kharod MK, Nawab S, Di Scipio M, Paré G, Chong M

Canadian Journal of Cardiology202423 citationsOpen Access

DOI: 10.1016/j.cjca.2024.03.025 PMID: W4394726580

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

Pathan N, Deng WQ, Di Scipio M, Khan M, Mao S, Morton RW, Lali R, Pigeyre M, Chong MR, Paré G

Nature Communications202422 citationsOpen Access

DOI: 10.1038/s41467-024-45407-8 PMID: W4391676835

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

Man A, Di Scipio M, Dale B, Marques PT, Birbeck CS, Jain P, Trinari E, Ejaz R, Whitney R

Pediatric Neurology20243 citations

DOI: 10.1016/j.pediatrneurol.2024.09.014

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

Di Scipio M, Khan M, Mao S, Chong M, Judge C, Pathan N, Perrot N, Nelson W, Lali R, Di S

Nature Communications202327 citationsFirst authorOpen Access

DOI: 10.1038/s41467-023-40913-7 PMID: W4386167998

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

Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska‐Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl‐Wagner B

Clinical Genetics20226 citations

DOI: 10.1111/cge.14207

Contribution of rare coding variants to complex trait heritability

Pathan N, Deng WQ, Khan M, Scipio MD, Mao S, Morton RW, Lali R, Pigeyre M, Chong MR, Paré G

Genetic Epidemiology20221 citations

DOI: 10.21203/rs.3.rs-2159360/v1

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Pechhacker MKG, Jacobson SG, Drack AV, Di Scipio M, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J

Investigative Ophthalmology and Visual Science202127 citations

DOI: 10.1167/iovs.62.15.26

Frequent collaborators

Co-authors at McMaster University. Thicker lines mean more shared papers.Explore the network

Guillaume Pare

Pathology & Molecular Medicine

6 shared papers, latest 2024

Wei Deng

Psychiatry & Behavioural Neurosciences

2 shared papers, latest 2024