Di Scipio M - Search Results

1

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.

Adele R, Hussein R, Tavares E, Ahmed K, Di Scipio M, Charish J, Liang M, Monis S, Tumber A, Chen X, Paton TA, Roslin NM, Eileen C, Ivakine E, Sunny NE, Wilson MD, Campos E, Rajala RV, Maynes JT, Monnier PP, Paterson AD, Héon E, Vincent A. Adele R, et al. Among authors: di scipio m. JCI Insight. 2024 Dec 6;9(23):e178768. doi: 10.1172/jci.insight.178768. JCI Insight. 2024. PMID: 39436697 Free PMC article.

2

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. Man A, et al. Among authors: di scipio m. Pediatr Neurol. 2024 Dec;161:158-161. doi: 10.1016/j.pediatrneurol.2024.09.014. Epub 2024 Sep 21. Pediatr Neurol. 2024. PMID: 39383590

3

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. Man A, et al. Among authors: di scipio m. Am J Med Genet A. 2025 Feb;197(2):e63864. doi: 10.1002/ajmg.a.63864. Epub 2024 Sep 26. Am J Med Genet A. 2025. PMID: 39324309

4

Genetic Determinants of Vascular Dementia.

Pathan N, Kharod MK, Nawab S, Di Scipio M, Paré G, Chong M. Pathan N, et al. Among authors: di scipio m. Can J Cardiol. 2024 Aug;40(8):1412-1423. doi: 10.1016/j.cjca.2024.03.025. Epub 2024 Apr 3. Can J Cardiol. 2024. PMID: 38579965 Free article. Review.

5

What Causes Premature Coronary Artery Disease?

Le A, Peng H, Golinsky D, Di Scipio M, Lali R, Paré G. Le A, et al. Among authors: di scipio m. Curr Atheroscler Rep. 2024 Jun;26(6):189-203. doi: 10.1007/s11883-024-01200-y. Epub 2024 Apr 4. Curr Atheroscler Rep. 2024. PMID: 38573470 Review.

6

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. Man A, et al. Among authors: di scipio m. Genes (Basel). 2024 Mar 4;15(3):332. doi: 10.3390/genes15030332. Genes (Basel). 2024. PMID: 38540392 Free PMC article. Review.

7

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. Pathan N, et al. Among authors: di scipio m. Nat Commun. 2024 Feb 9;15(1):1245. doi: 10.1038/s41467-024-45407-8. Nat Commun. 2024. PMID: 38336875 Free PMC article.

8

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, Morton R, Petch J, Paré G. Di Scipio M, et al. Nat Commun. 2023 Aug 25;14(1):5196. doi: 10.1038/s41467-023-40913-7. Nat Commun. 2023. PMID: 37626057 Free PMC article.

9

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, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A. Dvaladze A, et al. Among authors: di scipio m. Clin Genet. 2022 Dec;102(6):524-529. doi: 10.1111/cge.14207. Epub 2022 Aug 14. Clin Genet. 2022. PMID: 35916082

10

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.

Tabbarah S, Tavares E, Charish J, Vincent A, Paterson A, Di Scipio M, Yin Y, Mendoza-Londono R, Maynes J, Heon E, Monnier PP. Tabbarah S, et al. Among authors: di scipio m. Sci Rep. 2020 Dec 4;10(1):21269. doi: 10.1038/s41598-020-77394-3. Sci Rep. 2020. PMID: 33277529 Free PMC article.

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