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Identification of new Wilms tumour predisposition genes: an exome sequencing study.
Mahamdallie S, Yost S, Poyastro-Pearson E, Holt E, Zachariou A, Seal S, Elliott A, Clarke M, Warren-Perry M, Hanks S, Anderson J, Bomken S, Cole T, Farah R, Furtwaengler R, Glaser A, Grundy R, Hayden J, Lowis S, Millot F, Nicholson J, Ronghe M, Skeen J, Williams D, Yeomanson D, Ruark E, Rahman N. Mahamdallie S, et al. Lancet Child Adolesc Health. 2019 May;3(5):322-331. doi: 10.1016/S2352-4642(19)30018-5. Epub 2019 Mar 16. Lancet Child Adolesc Health. 2019. PMID: 30885698 Free PMC article.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: mahamdallie s. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Hanks S, Perdeaux ER, Seal S, Ruark E, Mahamdallie SS, Murray A, Ramsay E, Del Vecchio Duarte S, Zachariou A, de Souza B, Warren-Perry M, Elliott A, Davidson A, Price H, Stiller C, Pritchard-Jones K, Rahman N. Hanks S, et al. Among authors: mahamdallie ss. Nat Commun. 2014 Aug 7;5:4398. doi: 10.1038/ncomms5398. Nat Commun. 2014. PMID: 25099282 Free PMC article.
Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Mahamdallie SS, et al. Nat Genet. 2015 Dec;47(12):1471-4. doi: 10.1038/ng.3440. Epub 2015 Nov 9. Nat Genet. 2015. PMID: 26551668
The ICR1000 UK exome series: a resource of gene variation in an outbred population.
Ruark E, Münz M, Renwick A, Clarke M, Ramsay E, Hanks S, Mahamdallie S, Elliott A, Seal S, Strydom A, Gerton L, Rahman N. Ruark E, et al. Among authors: mahamdallie s. F1000Res. 2015 Sep 22;4:883. doi: 10.12688/f1000research.7049.1. eCollection 2015. F1000Res. 2015. PMID: 26834991 Free PMC article.
CoverView: a sequence quality evaluation tool for next generation sequencing data.
Münz M, Mahamdallie S, Yost S, Rimmer A, Poyastro-Pearson E, Strydom A, Seal S, Ruark E, Rahman N. Münz M, et al. Among authors: mahamdallie s. Wellcome Open Res. 2018 Apr 4;3:36. doi: 10.12688/wellcomeopenres.14306.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29881786 Free PMC article.
Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
Kemp Z, Turnbull A, Yost S, Seal S, Mahamdallie S, Poyastro-Pearson E, Warren-Perry M, Eccleston A, Tan MM, Teo SH, Turner N, Strydom A, George A, Rahman N. Kemp Z, et al. Among authors: mahamdallie s. JAMA Netw Open. 2019 May 3;2(5):e194428. doi: 10.1001/jamanetworkopen.2019.4428. JAMA Netw Open. 2019. PMID: 31125106 Free PMC article.
27 results