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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Mestek-Boukhibar L, Clement E, Jones WD, Drury S, Ocaka L, Gagunashvili A, Le Quesne Stabej P, Bacchelli C, Jani N, Rahman S, Jenkins L, Hurst JA, Bitner-Glindzicz M, Peters M, Beales PL, Williams HJ. Mestek-Boukhibar L, et al. J Med Genet. 2018 Nov;55(11):721-728. doi: 10.1136/jmedgenet-2018-105396. Epub 2018 Jul 26. J Med Genet. 2018. PMID: 30049826 Free PMC article.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Wortmann SB, et al. Among authors: mestek boukhibar l. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004446 Free PMC article.
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity.
Volz E, Hill V, McCrone JT, Price A, Jorgensen D, O'Toole Á, Southgate J, Johnson R, Jackson B, Nascimento FF, Rey SM, Nicholls SM, Colquhoun RM, da Silva Filipe A, Shepherd J, Pascall DJ, Shah R, Jesudason N, Li K, Jarrett R, Pacchiarini N, Bull M, Geidelberg L, Siveroni I; COG-UK Consortium; Goodfellow I, Loman NJ, Pybus OG, Robertson DL, Thomson EC, Rambaut A, Connor TR. Volz E, et al. Cell. 2021 Jan 7;184(1):64-75.e11. doi: 10.1016/j.cell.2020.11.020. Epub 2020 Nov 19. Cell. 2021. PMID: 33275900 Free PMC article.
Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020.
Alm E, Broberg EK, Connor T, Hodcroft EB, Komissarov AB, Maurer-Stroh S, Melidou A, Neher RA, O'Toole Á, Pereyaslov D; WHO European Region sequencing laboratories and GISAID EpiCoV group; WHO European Region sequencing laboratories and GISAID EpiCoV group*. Alm E, et al. Euro Surveill. 2020 Aug;25(32):2001410. doi: 10.2807/1560-7917.ES.2020.25.32.2001410. Euro Surveill. 2020. PMID: 32794443 Free PMC article.
The developmental genetics of biological robustness.
Mestek Boukhibar L, Barkoulas M. Mestek Boukhibar L, et al. Ann Bot. 2016 Apr;117(5):699-707. doi: 10.1093/aob/mcv128. Epub 2015 Aug 20. Ann Bot. 2016. PMID: 26292993 Free PMC article. Review.