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Implementation of precision medicine in healthcare-A European perspective.
Stenzinger A, Moltzen EK, Winkler E, Molnar-Gabor F, Malek N, Costescu A, Jensen BN, Nowak F, Pinto C, Ottersen OP, Schirmacher P, Nordborg J, Seufferlein T, Fröhling S, Edsjö A, Garcia-Foncillas J, Normanno N, Lundgren B, Friedman M, Bolanos N, Tatton-Brown K, Hill S, Rosenquist R. Stenzinger A, et al. J Intern Med. 2023 Oct;294(4):437-454. doi: 10.1111/joim.13698. Epub 2023 Jul 26. J Intern Med. 2023. PMID: 37455247 Review.
[No title available]
[No authors listed] [No authors listed] PMID: 38614506
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.
Grens K, Church KM, Diehl E, Hunter SE, Tatton-Brown K, Kiernan J, Delagrammatikas CG. Grens K, et al. Among authors: tatton brown k. Ther Adv Rare Dis. 2024 May 31;5:26330040241254123. doi: 10.1177/26330040241254123. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38827639 Free PMC article. Review.
Genotes - a 'just-in-time' genomics education resource co-designed with clinicians.
Frost A, Kelly A, Bishop M, Bogue D, Copson E, Gompertz L, Hay E, Hayward J, Hendriks E, McVeigh T, Simpson S, Tatton-Brown K. Frost A, et al. Among authors: tatton brown k. BMC Med Educ. 2024 Nov 26;24(1):1378. doi: 10.1186/s12909-024-06059-w. BMC Med Educ. 2024. PMID: 39593035 Free PMC article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
92 results