| Publications | PubMed=16714754; DOI=10.1259/bjr/83726649
Arlett C.F., Plowman P.N., Rogers P.B., Parris C.N., Abbaszadeh F., Green M.H.L., McMillan T.J., Bush C., Foray N., Lehmann A.R.
Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum.
Br. J. Radiol. 79:510-517(2006) PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008) PubMed=21566739; PMCID=PMC3022359
Gremmel T., Wild S., Schuller W., Kurten V., Dietz K., Krutmann J., Berneburg M.
Six genes associated with the clinical phenotypes of individuals with deficient and proficient DNA repair.
Transl. Oncogenomics 3:1-13(2008) PubMed=19179371; DOI=10.1093/nar/gkp023; PMCID=PMC2651789
Limsirichaikul S., Niimi A., Fawcett H., Lehmann A.R., Yamashita S., Ogi T.
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).
Nucleic Acids Res. 37:e31.1-e31.10(2009) PubMed=22466610; DOI=10.1038/ng.2229
Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.-i., Ogi T.
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nat. Genet. 44:586-592(2012) PubMed=26743599; DOI=10.1016/j.jid.2015.12.031
Sethi M., Haque S., Fawcett H., Wing J.F., Chandler N., Mohammed S., Frayling I.M., Norris P.G., McGibbon D., Young A.R., Sarkany R.P.E., Lehmann A.R., Fassihi H.
A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/Pakistan/Afghanistan.
J. Invest. Dermatol. 136:869-872(2016) PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., Sarkany R.P.E., Lehmann A.R.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016) |
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