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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223
Maternal attitudes to newborn screening for fragile X syndrome.
Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. Christie L, et al. Am J Med Genet A. 2013 Feb;161A(2):301-11. doi: 10.1002/ajmg.a.35752. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303663
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: hunter mf. Am J Hum Genet. 2015 Aug 6;97(2):302-10. doi: 10.1016/j.ajhg.2015.05.021. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166480 Free PMC article.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: hunter mf. Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019. Mol Autism. 2019. PMID: 31073396 Free PMC article.
Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss.
Sung V, Downie L, Paxton GA, Liddle K, Birman CS, Chan WW, Cottier C, Harris A, Hunter M, Peadon E, Peacock K, Roddick L, Rose E, Saunders K, Amor DJ. Sung V, et al. J Paediatr Child Health. 2019 Sep;55(9):1013-1022. doi: 10.1111/jpc.14508. J Paediatr Child Health. 2019. PMID: 31524978 No abstract available.
58 results