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Page 1
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.
Jayasinghe K, Biros E, Harris T, Wood A, O'Shea R, Hill L, Fowles L, Wardrop L, Shalhoub C, Hahn D, Rangan G, Kevin L, Tchan M, Snelling P, Sandow R, Sundaram M, Chaturvedi S, Trnka P, Faull R, Poplawski NK, Huntley V, Garza D, Wallis M, Jose M, Leaver A, Trainer AH, Wilkins EJ, White S, Elbaum Y, Prawer Y, Krzesinski E, Valente G, Winship I, Ryan J, Whitlam J, Nicholls K, West K, Donaldson L, Johnstone L, Lewit-Mendes M, Kerr PG, Bodek S, Chakera A, MacShane M, Mincham C, Stackpoole E, Willis F, Soraru J, Pachter N, Bennetts B, Forbes TA, Mallawaarachchi A, Quinlan C, Patel C, McCarthy H, Goranitis I, Best S, Alexander S, Stark Z, Mallett AJ. Jayasinghe K, et al. Among authors: valente g. Kidney Int Rep. 2024 May 9;9(8):2372-2385. doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156154 Free PMC article.
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
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
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.
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.
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
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
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Mallawaarachchi AC, Fowles L, Wardrop L, Wood A, O'Shea R, Biros E, Harris T, Alexander SI, Bodek S, Boudville N, Burke J, Burnett L, Casauria S, Chadban S, Chakera A, Crafter S, Dai P, De Fazio P, Faull R, Honda A, Huntley V, Jahan S, Jayasinghe K, Jose M, Leaver A, MacShane M, Madelli EO, Nicholls K, Pawlowski R, Rangan G, Snelling P, Soraru J, Sundaram M, Tchan M, Valente G, Wallis M, Wedd L, Welland M, Whitlam J, Wilkins EJ, McCarthy H, Simons C, Quinlan C, Patel C, Stark Z, Mallett AJ. Mallawaarachchi AC, et al. Among authors: valente g. Clin J Am Soc Nephrol. 2024 Jul 1;19(7):887-897. doi: 10.2215/CJN.0000000000000464. Epub 2024 May 3. Clin J Am Soc Nephrol. 2024. PMID: 38861662
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, John T, Mullen S, White SM, Brown NJ, McGillivray G, Chen J, Richmond C, Hughes A, Krzesinski E, Fennell A, Chambers B, Santoreneos R, Le Fevre A, Hildebrand MS, Bahlo M, Christodoulou J, Delatycki M, Berkovic SF. Wallis M, et al. Among authors: valente g. Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. Orphanet J Rare Dis. 2024. PMID: 39095811 Free PMC article.
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.
Mallawaarachchi A, Biros E, Harris T, Bennetts B, Boughtwood T, Elliott J, Fowles L, Gardos R, Garza D, Goranitis I, Haas M, Huntley V, Jefferis J, Kassahn K, Leaver A, Lundie B, Lunke S, O'Connor C, Pratt G, Quinlan C, Shearman D, Soraru J, Sundaram M, Tchan M, Valente G, White J, Wilkins E, Alexander SI, Amir N, Best S, Gul H, Jayasinghe K, McCarthy H, Patel C, Stark Z, Mallett AJ. Mallawaarachchi A, et al. Among authors: valente g. Hum Genomics. 2024 Aug 17;18(1):88. doi: 10.1186/s40246-024-00656-y. Hum Genomics. 2024. PMID: 39154021 Free PMC article.
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