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3,648 results

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"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P, DeSouza B, Dubois L, Harrison R, Hawkes L, Jones EA, Kraus A, McEntagart M, Somarathi S, Taylor A, Tripathi V, Chitty LS, Hill M. Stafford-Smith B, et al. Among authors: brennan p. Eur J Hum Genet. 2024 Nov 5. doi: 10.1038/s41431-024-01716-6. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39496896 Free article.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: brennan p. Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. Am J Hum Genet. 2024. PMID: 38776926 Free PMC article.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
Investigating the genetic relationship between Alzheimer's disease and cancer using GWAS summary statistics.
Feng YA, Cho K, Lindstrom S, Kraft P, Cormack J; IGAP Consortium, Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Transdisciplinary Research in Cancer of the Lung (TRICL); Liang L, Driver JA. Feng YA, et al. Hum Genet. 2017 Oct;136(10):1341-1351. doi: 10.1007/s00439-017-1831-6. Epub 2017 Aug 5. Hum Genet. 2017. PMID: 28780673 Free PMC article.
REtrieving thrombi and Separated Coils/catheters Unexpectedly detached during Endovascular therapy: RESCUE - the use of thrombectomy devices for rescue therapy in interventional neuroradiology.
Herlihy D, Singh S, Nicholson P, Griffin E, O'Hare A, Brennan P, Thornton J, Power S. Herlihy D, et al. Among authors: brennan p. Interv Neuroradiol. 2024 Dec 19:15910199241299139. doi: 10.1177/15910199241299139. Online ahead of print. Interv Neuroradiol. 2024. PMID: 39699019 Free PMC article.
Validation of the GCS-Pupil Scale in Traumatic Brain Injury: Incremental Prognostic Value of Pupillary Reactivity with GCS in the Prospective Observational Cohorts CENTER-TBI and TRACK-TBI.
Vreeburg RJG, van Leeuwen FD, Manley GT, Yue JK, Brennan PM, Sun X, Jain S, van Essen TA, Peul WC, Maas AIR, Menon DK, Steyerberg EW; CENTER-TBI, TRACK-TBI participants and investigators, and the members of the clinical working group of the National Institutes of Health–National Institute of Neurological Disorders and Stroke initiative on classification and nomenclature of traumatic brain injury. Vreeburg RJG, et al. Among authors: brennan pm. J Neurotrauma. 2024 Dec 17. doi: 10.1089/neu.2024.0458. Online ahead of print. J Neurotrauma. 2024. PMID: 39686742
Interdisciplinary perspectives on the co-management of metabolic dysfunction-associated steatotic liver disease and coronary artery disease.
Gries JJ, Lazarus JV, Brennan PN, Siddiqui MS, Targher G, Lang CC, Virani SS, Lavie CJ, Isaacs S, Arab JP, Cusi K, Krittanawong C. Gries JJ, et al. Among authors: brennan pn. Lancet Gastroenterol Hepatol. 2025 Jan;10(1):82-94. doi: 10.1016/S2468-1253(24)00310-8. Lancet Gastroenterol Hepatol. 2025. PMID: 39674228 Review.
Identification and characterization of human KALRN mRNA and Kalirin protein isoforms.
Mould AW, Wright DJ, Bornemann KD, Hengerer B, Pinnock R, Drydale E, Bancroft J, Hall NAL, von Delft A, Brennan PE, Harrison PJ, Haerty W, Tunbridge EM. Mould AW, et al. Among authors: brennan pe. Cereb Cortex. 2024 Dec 3;34(12):bhae470. doi: 10.1093/cercor/bhae470. Cereb Cortex. 2024. PMID: 39656879 Free PMC article.
3,648 results