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Page 1
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams SG, Keavney BD, Thiruvahindrapuram B, Scherer SW, Bassett AS. Reuter MS, et al. Among authors: chaturvedi rr. Circ Genom Precis Med. 2021 Aug;14(4):e003410. doi: 10.1161/CIRCGEN.121.003410. Epub 2021 Jul 30. Circ Genom Precis Med. 2021. PMID: 34328347 Free PMC article. Clinical Trial.
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Reuter MS, et al. Among authors: chaturvedi rr. Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20. Genet Med. 2019. PMID: 30232381 Free PMC article.
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter MS, Chaturvedi RR, Liston E, Manshaei R, Aul RB, Bowdin S, Cohn I, Curtis M, Dhir P, Hayeems RZ, Hosseini SM, Khan R, Ly LG, Marshall CR, Mertens L, Okello JBA, Pereira SL, Raajkumar A, Seed M, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK. Reuter MS, et al. Among authors: chaturvedi rr. Genet Med. 2020 Jun;22(6):1015-1024. doi: 10.1038/s41436-020-0757-x. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037394 Free PMC article.
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, Marshall CR, Jobling RK, Oechslin E, Wald RM, Silversides CK, Scherer SW, Kim RH, Bassett AS. Manshaei R, et al. Front Genet. 2020 Sep 15;11:957. doi: 10.3389/fgene.2020.00957. eCollection 2020. Front Genet. 2020. PMID: 33110418 Free PMC article.
A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic.
Liston EJ, Kalbfleisch KJ, Stanley KJ, Chaturvedi RR, Cohn I, Farncombe KM, Hayeems RZ, Schwartz MLB, Somerville CB, Kim RH, Jobling RK. Liston EJ, et al. Among authors: chaturvedi rr. Can J Cardiol. 2022 Sep;38(9):1454-1457. doi: 10.1016/j.cjca.2022.04.015. Epub 2022 Apr 22. Can J Cardiol. 2022. PMID: 35469975 Free article. No abstract available.
MRI Phase-Contrast Blood Flow in Fasting Pediatric Patients with Fontan Circulation Correlates with Exercise Capacity.
Lam CZ, David D, Acosta Izquierdo L, Pezeshkpour P, Dipchand AI, Jean-St-Michel E, Chaturvedi RR, Ling SC, Wald RM, Chavhan GB, Seed M, Yoo SJ. Lam CZ, et al. Among authors: chaturvedi rr. Radiol Cardiothorac Imaging. 2022 Apr 21;4(2):e210303. doi: 10.1148/ryct.210303. eCollection 2022 Apr. Radiol Cardiothorac Imaging. 2022. PMID: 35506132 Free PMC article.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: chaturvedi rr. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01629-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778082
108 results