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Page 1
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: valente g. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Yeung A, Tan NB, Tan TY, Stark Z, Brown N, Hunter MF, Delatycki M, Stutterd C, Savarirayan R, Mcgillivray G, Stapleton R, Kumble S, Downie L, Regan M, Lunke S, Chong B, Phelan D, Brett GR, Jarmolowicz A, Prawer Y, Valente G, Smagarinsky Y, Martyn M, McEwan C, Goranitis I, Gaff C, White SM. Yeung A, et al. Among authors: valente g. Genet Med. 2020 Dec;22(12):1986-1993. doi: 10.1038/s41436-020-0929-8. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773771 Free article.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance; Gaff CL. Martyn M, et al. Among authors: valente g. J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18. J Genet Couns. 2019. PMID: 30776170
Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, Prawer Y, Lynch E, Macciocca I. Brett GR, et al. J Genet Couns. 2018 Sep;27(5):1010-1021. doi: 10.1007/s10897-018-0216-x. Epub 2018 Jan 24. J Genet Couns. 2018. PMID: 29368275
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z, Lin S, Zhao X, Bennett MF, Brown NJ, Wallis M, Gao X, Sun L, Wu J, Vedururu R, Witkowski T, Gardiner F, Stutterd C, Duan J, Mullen SA, McGillivray G, Bodek S, Valente G, Reagan M, Yao Y, Li L, Chen L, Boys A, Adikari TN, Cao D, Hu Z, Beshay V, Zhang VW, Berkovic SF, Scheffer IE, Liao J, Hildebrand MS. Ye Z, et al. Among authors: valente g. Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6. Hum Mutat. 2022. PMID: 36030538
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
Huq AJ, Thompson B, Bennett MF, Bournazos A, Bommireddipalli S, Gorelik A, Schultz J, Sexton A, Purvis R, West K, Cotter M, Valente G, Hughes A, Riaz M, Walsh M, Farrand S, Loi SM, Kilpatrick T, Brodtmann A, Darby D, Eratne D, Walterfang M, Delatycki MB, Storey E, Fahey M, Cooper S, Lacaze P, Masters CL, Velakoulis D, Bahlo M, James PA, Winship I. Huq AJ, et al. Among authors: valente g. J Neurol Neurosurg Psychiatry. 2022 Jul 29:jnnp-2021-328146. doi: 10.1136/jnnp-2021-328146. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35906014
Saliva as a Biological Fluid in SARS-CoV-2 Detection.
Silva ETT, Furtado FB, Silveira RAD, Tasca KI, Silva CN, Godoy AT, Moraes LN, Hong MV, Alves CG, Simões RP, Kubo AMS, Fortaleza CMCB, Pereira-Lima MC, Valente GT, Grotto RMT. Silva ETT, et al. Among authors: valente gt. Diagnostics (Basel). 2024 Apr 29;14(9):922. doi: 10.3390/diagnostics14090922. Diagnostics (Basel). 2024. PMID: 38732336 Free PMC article.
GLI1+ Cells Contribute to Vascular Remodeling in Pulmonary Hypertension.
Chu X, Kheirollahi V, Lingampally A, Chelladurai P, Valasarajan C, Vazquez-Armendariz AI, Hadzic S, Khadim A, Pak O, Rivetti S, Wilhelm J, Bartkuhn M, Crnkovic S, Moiseenko A, Heiner M, Kraut S, Atefi LS, Koepke J, Valente G, Ruppert C, Braun T, Samakovlis C, Alexopoulos I, Looso M, Chao CM, Herold S, Seeger W, Kwapiszewska G, Huang X, Zhang JS, Pullamsetti SS, Weissmann N, Li X, El Agha E, Bellusci S. Chu X, et al. Among authors: valente g. Circ Res. 2024 May 24;134(11):e133-e149. doi: 10.1161/CIRCRESAHA.123.323736. Epub 2024 Apr 19. Circ Res. 2024. PMID: 38639105 Free article.
424 results