Publications by authors named "Matteo Di Scipio"

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Identification of effect modifiers using a stratified Mendelian randomization algorithmic framework.
Alice Man, Leona Knüsel, Josef Graf, Ricky Lali, Ann Le, Matteo Di Scipio

Eur J Epidemiol· March 2025

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Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.
Alice Man, Matteo Di Scipio, Haley McConkey, Rebecca Hough, Nina Stein

Am J Med Genet A· February 2025

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Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.
Alice Man, Matteo Di Scipio, Breanne Dale, Paula Teixeira Marques, Cynthia Sloan Birbeck

Pediatr Neurol· December 2024

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Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.
Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio

JCI Insight· December 2024

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Genetic Determinants of Vascular Dementia.
Nazia Pathan, Muskaan Kaur Kharod, Sajjha Nawab, Matteo Di Scipio, Guillaume Paré

Can J Cardiol· August 2024

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What Causes Premature Coronary Artery Disease?
Ann Le, Helen Peng, Danielle Golinsky, Matteo Di Scipio, Ricky Lali

Curr Atheroscler Rep· June 2024

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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.
Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari

Genes (Basel)· March 2024

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A method to estimate the contribution of rare coding variants to complex trait heritability.
Nazia Pathan, Wei Q Deng, Matteo Di Scipio, Mohammad Khan, Shihong Mao

Nat Commun· February 2024

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A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets.
Matteo Di Scipio, Mohammad Khan, Shihong Mao, Michael Chong, Conor Judge

Nat Commun· August 2023

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Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K Grudzinska-Pechhacker

Clin Genet· December 2022

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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, Matteo Di Scipio, Ine Strubbe

Invest Ophthalmol Vis Sci· December 2021

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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Anjali Vig, James A Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Matteo Di Scipio

Genet Med· December 2020

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COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.
Sami Tabbarah, Erika Tavares, Jason Charish, Ajoy Vincent, Andrew Paterson, Matteo Di Scipio

Sci Rep· December 2020

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-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Monika K Grudzinska Pechhacker, Matteo Di Scipio, Anjali Vig, Anupreet Tumber, Nicole Roslin

Ophthalmic Genet· October 2020

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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, Isabelle Audo, Kit Green-Sanderson

Invest Ophthalmol Vis Sci· August 2020

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Biomarkers of agitation and aggression in Alzheimer's disease: A systematic review.
Myuri Ruthirakuhan, Krista L Lanctôt, Matteo Di Scipio, Mehnaz Ahmed, Nathan Herrmann

Alzheimers Dement· October 2018

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CDC42 regulates the expression of superficial zone molecules in part through the actin cytoskeleton and myocardin-related transcription factor-A.
Elizabeth Delve, Justin Parreno, Vivian Co, Po-Han Wu, Jasmine Chong, Matteo Di Scipio

J Orthop Res· September 2018

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