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Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER. White DR, et al. Among authors: macdonald f. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg.5201736. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106446
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. Among authors: macdonald f. Eur J Hum Genet. 2005 Sep;13(9):1025-32. doi: 10.1038/sj.ejhg.5201463. Eur J Hum Genet. 2005. PMID: 15999116
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER. Shuib S, et al. Among authors: macdonald f. Am J Med Genet A. 2009 Oct;149A(10):2099-105. doi: 10.1002/ajmg.a.32824. Am J Med Genet A. 2009. PMID: 19760623
Clinical utility gene card for: von Hippel-Lindau (VHL).
Decker J, Neuhaus C, Macdonald F, Brauch H, Maher ER. Decker J, et al. Among authors: macdonald f. Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.180. Epub 2013 Aug 28. Eur J Hum Genet. 2014. PMID: 23982691 Free PMC article. No abstract available.
Genotype-phenotype correlations in VHL exon deletions.
McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER. McNeill A, et al. Among authors: macdonald f. Am J Med Genet A. 2009 Oct;149A(10):2147-51. doi: 10.1002/ajmg.a.33023. Am J Med Genet A. 2009. PMID: 19764026
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T. Eggermann K, et al. Among authors: macdonald f. Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165005 Free PMC article.
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Ricketts CJ, et al. Among authors: macdonald f. Hum Mutat. 2010 Jan;31(1):41-51. doi: 10.1002/humu.21136. Hum Mutat. 2010. PMID: 19802898
268 results