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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
Remarkably Divergent Regions Punctuate the Genome Assembly of the Caenorhabditis elegans Hawaiian Strain CB4856.
Thompson OA, Snoek LB, Nijveen H, Sterken MG, Volkers RJ, Brenchley R, Van't Hof A, Bevers RP, Cossins AR, Yanai I, Hajnal A, Schmid T, Perkins JD, Spencer D, Kruglyak L, Andersen EC, Moerman DG, Hillier LW, Kammenga JE, Waterston RH. Thompson OA, et al. Among authors: bevers rp. Genetics. 2015 Jul;200(3):975-89. doi: 10.1534/genetics.115.175950. Epub 2015 May 19. Genetics. 2015. PMID: 25995208 Free PMC article.
Temporal dynamics of gene expression in heat-stressed Caenorhabditis elegans.
Jovic K, Sterken MG, Grilli J, Bevers RPJ, Rodriguez M, Riksen JAG, Allesina S, Kammenga JE, Snoek LB. Jovic K, et al. Among authors: bevers rpj. PLoS One. 2017 Dec 11;12(12):e0189445. doi: 10.1371/journal.pone.0189445. eCollection 2017. PLoS One. 2017. PMID: 29228038 Free PMC article.
Dissecting the eQTL Micro-Architecture in Caenorhabditis elegans.
Sterken MG, Bevers RPJ, Volkers RJM, Riksen JAG, Kammenga JE, Snoek BL. Sterken MG, et al. Among authors: bevers rpj. Front Genet. 2020 Nov 3;11:501376. doi: 10.3389/fgene.2020.501376. eCollection 2020. Front Genet. 2020. PMID: 33240309 Free PMC article.
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR; Genomics England Research Consortium; Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM. Rowlands C, et al. Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. Sci Rep. 2021. PMID: 34663891 Free PMC article.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. Best S, et al. Among authors: bevers rpj. J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. J Med Genet. 2022. PMID: 34716235 Free PMC article.
32 results