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127 results

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Page 1
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Benne… See abstract for full author list ➔ Bournazos AM, et al. Among authors: bennetts b. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: bennetts b. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Kirk EP, et al. Among authors: bennetts bh. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987
Intronic variants in inborn errors of metabolism: Beyond the exome.
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Among authors: bennetts b. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Ma A, Newing TP, O'Shea R, Gokoolparsadh A, Murdoch E, Hayward J, Shannon G, Kevin L, Bennetts B, Ho G, Smith J, Shah M, Jones KJ, Josephi-Taylor S, Sandaradura SA, Adès L, Jamieson R, Rankin NM. Ma A, et al. Among authors: bennetts b. J Paediatr Child Health. 2024 Apr-May;60(4-5):118-124. doi: 10.1111/jpc.16547. Epub 2024 Apr 11. J Paediatr Child Health. 2024. PMID: 38605555
De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.
Hudson R, Abeysekera N, Wolski P, Simons C, Francis L, Farnsworth E, Bennetts B, Patel C, Spijker S, Mallett A. Hudson R, et al. Among authors: bennetts b. J Nephrol. 2024 Jan;37(1):191-197. doi: 10.1007/s40620-023-01666-0. Epub 2023 Jun 13. J Nephrol. 2024. PMID: 37308774 Free PMC article. No abstract available.
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: bennetts b. 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.
127 results