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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC; Wellcome Trust Case Control Consortium; Cardon L, Mathew CG. Parkes M, et al. Among authors: bagnall r. Nat Genet. 2007 Jul;39(7):830-2. doi: 10.1038/ng2061. Epub 2007 Jun 6. Nat Genet. 2007. PMID: 17554261 Free PMC article.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 Free PMC article. Review.
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
Cranio-maxillary fixation using supra-orbital pins.
Wallace J, Bagnall RD. Wallace J, et al. Among authors: bagnall rd. Int J Oral Maxillofac Surg. 1986 Feb;15(1):8-11. doi: 10.1016/s0300-9785(86)80004-7. Int J Oral Maxillofac Surg. 1986. PMID: 3083008
Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.
Li S, Fraser S, Ranpura G, Lim S, Singer ES, Parker JDK, Crowe J, Bagnall RD, Laksman Z, Semsarian C. Li S, et al. Among authors: bagnall rd. Stem Cell Res. 2023 Sep;71:103153. doi: 10.1016/j.scr.2023.103153. Epub 2023 Jun 23. Stem Cell Res. 2023. PMID: 37385135 Free article.
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.
Stafford F, Krishnan N, Richardson E, Butters A, Hespe S, Burns C, Gray B, Medi C, Nowak N, Isbister JC, Raju H, Richmond D, Ryan MP, Singer ES, Sy RW, Yeates L, Bagnall RD, Semsarian C, Ingles J. Stafford F, et al. Genome Med. 2022 Dec 28;14(1):145. doi: 10.1186/s13073-022-01149-0. Genome Med. 2022. PMID: 36578016 Free PMC article.
124 results