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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D. Molina-Ramírez LP, et al. Among authors: ealing j. J Med Genet. 2022 Apr;59(4):393-398. doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20. J Med Genet. 2022. PMID: 33879512 Free PMC article.
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network; Huson SM. Evans DG, et al. Among authors: ealing j. EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13. EBioMedicine. 2016. PMID: 27322474 Free PMC article.
Neurosurgical contribution within a complex NF1 supraregional service.
Raffalli-Ebezant H, George KJ, Burkitt-Wright E, Roncaroli F, Evans G, Soh C, Ealing J, Vassallo G, Elloo JE, Karabatsou K. Raffalli-Ebezant H, et al. Among authors: ealing j. Clin Neurol Neurosurg. 2019 May;180:18-24. doi: 10.1016/j.clineuro.2019.03.002. Epub 2019 Mar 4. Clin Neurol Neurosurg. 2019. PMID: 30870761
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, Schaefer E, Quelin C, Sigaudy S, Busa T, Vera G, Damaj L, Messiaen L, Stevenson DA, Davies P, Palmer-Smith S, Callaway A, Wolkenstein P, Pasmant E, Upadhyaya M. Forde C, et al. Among authors: ealing j. Eur J Hum Genet. 2022 Mar;30(3):291-297. doi: 10.1038/s41431-021-01015-4. Epub 2021 Dec 13. Eur J Hum Genet. 2022. PMID: 34897289 Free PMC article.
71 results