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Year Number of Results
2011 2
2012 1
2014 1
2015 3
2016 4
2017 3
2018 5
2019 3
2020 1
2021 1
2024 0

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23 results

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Page 1
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.
Sarcoma and the 100,000 Genomes Project: our experience and changes to practice.
Prendergast SC, Strobl AC, Cross W, Pillay N, Strauss SJ, Ye H, Lindsay D, Tirabosco R, Chalker J, Mahamdallie SS, Sosinsky A; RNOH Pathology Laboratory and Biobank Team; Genomics England Research Consortium; Flanagan AM, Amary F. Prendergast SC, et al. Among authors: mahamdallie ss. J Pathol Clin Res. 2020 Oct;6(4):297-307. doi: 10.1002/cjp2.174. Epub 2020 Jun 23. J Pathol Clin Res. 2020. PMID: 32573957 Free PMC article.
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.
Resolving the full spectrum of human genome variation using Linked-Reads.
Marks P, Garcia S, Barrio AM, Belhocine K, Bernate J, Bharadwaj R, Bjornson K, Catalanotti C, Delaney J, Fehr A, Fiddes IT, Galvin B, Heaton H, Herschleb J, Hindson C, Holt E, Jabara CB, Jett S, Keivanfar N, Kyriazopoulou-Panagiotopoulou S, Lek M, Lin B, Lowe A, Mahamdallie S, Maheshwari S, Makarewicz T, Marshall J, Meschi F, O'Keefe CJ, Ordonez H, Patel P, Price A, Royall A, Ruark E, Seal S, Schnall-Levin M, Shah P, Stafford D, Williams S, Wu I, Xu AW, Rahman N, MacArthur D, Church DM. Marks P, et al. Among authors: mahamdallie s. Genome Res. 2019 Apr;29(4):635-645. doi: 10.1101/gr.234443.118. Epub 2019 Mar 20. Genome Res. 2019. PMID: 30894395 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
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.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman N. Tatton-Brown K, et al. Among authors: mahamdallie s. Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29900417 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.
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.
23 results