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Matteo Di Scipio
Matteo Di Scipio
MD/PhD student, McMaster University
在 mcmaster.ca 的电子邮件经过验证
标题
引用次数
引用次数
年份
Biomarkers of agitation and aggression in Alzheimer's disease: a systematic review
M Ruthirakuhan, KL Lanctot, M Di Scipio, M Ahmed, N Herrmann
Alzheimer's & Dementia 14 (10), 1344-1376, 2018
372018
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ...
Genetics in Medicine 22 (12), 2041-2051, 2020
292020
Phenotype driven analysis of whole genome sequencing identifies deep intronic variants that cause retinal dystrophies by aberrant exonization
M Di Scipio, E Tavares, S Deshmukh, I Audo, K Green-Sanderson, ...
Investigative ophthalmology & visual science 61 (10), 36-36, 2020
192020
CDC42 regulates the expression of superficial zone molecules in part through the actin cytoskeleton and myocardin‐related transcription factor‐A
E Delve, J Parreno, V Co, PH Wu, J Chong, M Di Scipio, RA Kandel
Journal of Orthopaedic Research® 36 (9), 2421-2430, 2018
112018
Comparative natural history of visual function from patients with Biallelic variants in BBS1 and BBS10
MKG Pechhacker, SG Jacobson, AV Drack, M Di Scipio, I Strubbe, ...
Investigative ophthalmology & visual science 62 (15), 26-26, 2021
82021
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage
S Tabbarah, E Tavares, J Charish, A Vincent, A Paterson, M Di Scipio, ...
Scientific Reports 10 (1), 21269, 2020
12020
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency
MK Grudzinska Pechhacker, M Di Scipio, A Vig, A Tumber, N Roslin, ...
Ophthalmic Genetics 41 (5), 457-464, 2020
12020
A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets
M Di Scipio, M Khan, S Mao, M Chong, C Judge, N Pathan, N Perrot, ...
Nature Communications 14 (1), 5196, 2023
2023
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa
A Dvaladze, E Tavares, M Di Scipio, G Nimmo, ...
Clinical Genetics 102 (6), 524-529, 2022
2022
Contribution of rare coding variants to complex trait heritability
G Pare, N Pathan, W Deng, M Khan, M Di Scipio, S Mao, R Morton, R Lali, ...
2022
A Versatile, Fast, and Unbiased Method for Estimation of Gene-by-environment Interaction Effects on Biobank-Scale Datasets
M Di Scipio, M Khan, S Mao, M Chong, N Pathan, C Judge, N Perrot, ...
GENETIC EPIDEMIOLOGY 46 (7), 490-490, 2022
2022
Contribution of Rare Coding Variants to Complex Trait Heritability
N Pathan, M Khan, WQ Deng, M Chong, M Di Scipio, S Mao, R Morton, ...
GENETIC EPIDEMIOLOGY 46 (7), 523-523, 2022
2022
Natural history study of visual function in patients with BBS1-and BBS10-related retinal degeneration.
MG Pechhacker, SG Jacobson, AV Drack, M Di Scipio, I Stubbe, ...
Investigative Ophthalmology & Visual Science 62 (8), 3284-3284, 2021
2021
A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets
M Khan, M Di Scipio, C Judge, N Perrot, M Chong, S Mao, S Di, W Nelson, ...
medRxiv, 2021.04. 24.21255884, 2021
2021
CRB1-related retinopathy superimposed on a S-adenosylhomocysteine hydrolase deficiency phenotype
M Di Scipio, MK Pechhacker, A Vig, A Anupreet, E Tavares, A Vincent, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 186-187, 2020
2020
Proteoglycan 4 expression by superficial zone chondrocytes is regulated in part by JNK and P38 in vitro
E Delve, M Di Scipio, R Kandel
Osteoarthritis and Cartilage 28, S106, 2020
2020
A Novel Autosomal Dominant Retinal Dystrophy: Phenotypic description and Preliminary Genetic Investigations in a Pedigree.
A Vincent, M DiScipio, E Tavares, N Roslin, E Heon
Investigative Ophthalmology & Visual Science 60 (9), 5050-5050, 2019
2019
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