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SavvyCNV: Genome-wide CNV calling from off-target reads.
Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN. Laver TW, et al. Among authors: flanagan se. PLoS Comput Biol. 2022 Mar 16;18(3):e1009940. doi: 10.1371/journal.pcbi.1009940. eCollection 2022 Mar. PLoS Comput Biol. 2022. PMID: 35294448 Free PMC article.
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group. Pearson ER, et al. Among authors: flanagan se. N Engl J Med. 2006 Aug 3;355(5):467-77. doi: 10.1056/NEJMoa061759. N Engl J Med. 2006. PMID: 16885550 Free article.
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Ellard S, et al. Among authors: flanagan se. Am J Hum Genet. 2007 Aug;81(2):375-82. doi: 10.1086/519174. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17668386 Free PMC article.
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S. Patch AM, et al. Among authors: flanagan se. Diabetes Obes Metab. 2007 Nov;9 Suppl 2(Suppl 2):28-39. doi: 10.1111/j.1463-1326.2007.00772.x. Diabetes Obes Metab. 2007. PMID: 17919176 Free PMC article.
266 results