Matteo Di Scipio - Genetics and Genome Biology, The Hospital for Sick Children (HSC),

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论文共 21 篇作者统计合作学者相似作者

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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,Resham Ejaz,Robyn Whitney

Genesno. 3 (2024): 332-332

引用4浏览0WOS引用

What Causes Premature Coronary Artery Disease

Ann Le, Helen Peng, Danielle Golinsky,Matteo Di Scipio,Ricky Lali,Guillaume Paré

Current Atherosclerosis Reportspp.1-15, (2024)

引用4浏览0WOS引用

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,Puneet Jain, Elisabetta Trinari,Resham Ejaz,Robyn Whitney

PEDIATRIC NEUROLOGY (2024): 158-161

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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, Eric Diehl,Christian R. Marshall,Bekim Sadikovic,Resham Ejaz

American Journal of Medical Genetics Part A（2024）

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Genetic Determinants of Vascular Dementia

Nazia Pathan, Muskaan Kaur Kharod, Sajjha Nawab,Matteo Di Scipio,Guillaume Paré,Michael Chong

Canadian Journal of Cardiology (2024)

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P311: Use of a DNA Methylation Signature for the Diagnosis of TET3-related Beck-Fahrner Syndrome and Expansion of Its Related Phenotype

Alice Man,Matteo Di Scipio, Rebecca Hough,Haley McConkey, Eric Diehl,Christian Marshall,Bekim Sadikovic,Resham Ejaz

Genetics in Medicine Open (2024): 101206

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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,Jason Charish,Minggao Liang,Simon Monis,Anupreet Tumber, Xiaoyan Chen,Tara A. Paton,Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny,Michael D. Wilson,Eric Campos,Raju V. S. Rajala,Jason T. Maynes,Philippe P. Monnier,Andrew D. Paterson,Elise Heon,Ajoy Vincent

JCI INSIGHTno. 23 (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,Robert W. Morton,Ricky Lali,Marie Pigeyre,Michael R. Chong,Guillaume Paré

NATURE COMMUNICATIONS（2024）

引用2浏览0WOSNATURE引用

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,Nazia Pathan,Nicolas Perrot,Walter Nelson,Ricky Lali,Shuang Di,Robert Morton,Jeremy Petch,Guillaume Paré

Nature Communications（2023）

引用7浏览0WOSNATURE引用

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,Tara Paton,Anupreet Tumber,Shuning Li, Christabel Eileen, Birgit Ertl-Wagner,Eva Mamak,Georg Hoffmann,Christian R. Marshall,Dorothea Haas,Ertan Mayatepek,Andreas Schulze,Elise Heon,Ajoy Vincent

CLINICAL GENETICS（2022）

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