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601 results

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Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD. Quinlan-Jones E, et al. Among authors: maher er. Genet Med. 2019 May;21(5):1065-1073. doi: 10.1038/s41436-018-0298-8. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293990 Free PMC article.
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. Morgan NV, et al. Among authors: maher er. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826531 Free PMC article.
Characterization of a 3;6 translocation associated with renal cell carcinoma.
Foster RE, Abdulrahman M, Morris MR, Prigmore E, Gribble S, Ng B, Gentle D, Ready S, Weston PM, Wiesener MS, Kishida T, Yao M, Davison V, Barbero JL, Chu C, Carter NP, Latif F, Maher ER. Foster RE, et al. Among authors: maher er. Genes Chromosomes Cancer. 2007 Apr;46(4):311-7. doi: 10.1002/gcc.20403. Genes Chromosomes Cancer. 2007. PMID: 17205537 Free PMC article.
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: maher er. 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
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER. Meyer E, et al. Among authors: maher er. Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206334 Free PMC article.
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P. Bruce CK, et al. Among authors: maher er. Hum Mutat. 2010 Jul;31(7):858-65. doi: 10.1002/humu.21261. Hum Mutat. 2010. PMID: 20578233
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: maher er. Genes Chromosomes Cancer. 2011 Jul;50(7):479-88. doi: 10.1002/gcc.20865. Epub 2011 Mar 31. Genes Chromosomes Cancer. 2011. PMID: 21456047
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA. Bem D, et al. Among authors: maher er. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. Am J Hum Genet. 2011. PMID: 21473985 Free PMC article.
601 results