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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: mcmullan d. 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
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER. Innes J, et al. Among authors: mcmullan d. J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16. J Med Genet. 2018. PMID: 28918392
Reply: To PMID 23512800.
Kilby M, Hillman S, Maher E, McMullan D. Kilby M, et al. Among authors: mcmullan d. Ultrasound Obstet Gynecol. 2014 Mar;43(3):358-9. doi: 10.1002/uog.13264. Ultrasound Obstet Gynecol. 2014. PMID: 24591235 Free article. No abstract available.
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: mcmullan d. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.
Copy number profiling in von Hippel-Lindau disease renal cell carcinoma.
Shuib S, Wei W, Sur H, Morris MR, McMullan D, Rattenberry E, Meyer E, Maxwell PH, Kishida T, Yao M, Latif F, Maher ER. Shuib S, et al. Among authors: mcmullan d. Genes Chromosomes Cancer. 2011 Jul;50(7):479-88. doi: 10.1002/gcc.20865. Epub 2011 Mar 31. Genes Chromosomes Cancer. 2011. PMID: 21456047
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
Hammond P, Hannes F, Suttie M, Devriendt K, Vermeesch JR, Faravelli F, Forzano F, Parekh S, Williams S, McMullan D, South ST, Carey JC, Quarrell O. Hammond P, et al. Among authors: mcmullan d. Eur J Hum Genet. 2012 Jan;20(1):33-40. doi: 10.1038/ejhg.2011.135. Epub 2011 Jul 27. Eur J Hum Genet. 2012. PMID: 21792232 Free PMC article.
319 results