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Page 1
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.
Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I. Cardoso SR, et al. Among authors: pontikos n. Haematologica. 2017 Aug;102(8):e293-e296. doi: 10.3324/haematol.2017.167056. Epub 2017 May 11. Haematologica. 2017. PMID: 28495916 Free PMC article. No abstract available.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC; Plagnol V. Pontikos N, et al. Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147. Bioinformatics. 2017. PMID: 28334266
The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. CONTACT: n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. CONTACT: n.pontikos@ucl.ac. …
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T. Tummala H, et al. Among authors: pontikos n. Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9. Proc Natl Acad Sci U S A. 2018. PMID: 29987015 Free PMC article.
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I. Tummala H, et al. Among authors: pontikos n. Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. Blood. 2018. PMID: 30064976 Free PMC article. No abstract available.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: pontikos n. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I. Tummala H, et al. Among authors: pontikos n. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7. Proc Natl Acad Sci U S A. 2020. PMID: 32636268 Free PMC article.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: pontikos n. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
143 results