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Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.
Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER. Kent L, et al. Among authors: bowdin s. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1295-7. doi: 10.1002/ajmg.b.30729. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18314872
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER. Cooper WN, et al. Eur J Hum Genet. 2005 Sep;13(9):1025-32. doi: 10.1038/sj.ejhg.5201463. Eur J Hum Genet. 2005. PMID: 15999116
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).
Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM. Maher ER, et al. Among authors: bowdin sc. J Med Genet. 2003 Jan;40(1):62-4. doi: 10.1136/jmg.40.1.62. J Med Genet. 2003. PMID: 12525545 Free PMC article. No abstract available.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Among authors: bowdin s. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Costain G, et al. Among authors: bowdin s. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. Eur J Hum Genet. 2018. PMID: 29453418 Free PMC article.
58 results