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Page 1
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Among authors: fassihi h. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Sethi M, Haque S, Fawcett H, Wing JF, Chandler N, Mohammed S, Frayling IM, Norris PG, McGibbon D, Young AR, Sarkany RPE, Lehmann AR, Fassihi H. Sethi M, et al. Among authors: fassihi h. J Invest Dermatol. 2016 Apr;136(4):869-872. doi: 10.1016/j.jid.2015.12.031. Epub 2015 Dec 29. J Invest Dermatol. 2016. PMID: 26743599 Free article. No abstract available.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR. Fassihi H, et al. Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16. Proc Natl Acad Sci U S A. 2016. PMID: 26884178 Free PMC article.
A 'spot' diagnosis.
Sebaratnam DF, Sarkany RPE, Fassihi H. Sebaratnam DF, et al. Among authors: fassihi h. Arch Dis Child Educ Pract Ed. 2017 Aug;102(4):220-221. doi: 10.1136/archdischild-2016-310555. Epub 2016 Apr 26. Arch Dis Child Educ Pract Ed. 2017. PMID: 27117973 No abstract available.
Paediatric solar urticaria: a case series.
Fityan A, McGibbon D, Fassihi H, Sarkany RS. Fityan A, et al. Among authors: fassihi h. Br J Dermatol. 2018 Jun;178(6):1453-1454. doi: 10.1111/bjd.16325. Epub 2018 Apr 22. Br J Dermatol. 2018. PMID: 29315482 No abstract available.
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Garcia-Moreno H, Fassihi H, Sarkany RPE, Phukan J, Warner T, Lehmann AR, Giunti P. Garcia-Moreno H, et al. Among authors: fassihi h. Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan. Ann Clin Transl Neurol. 2017. PMID: 29376097 Free PMC article.
Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease.
Momen S, Fassihi H, Davies HR, Nikolaou C, Degasperi A, Stefanato CM, Dias JML, Dasgupta D, Craythorne E, Sarkany R, Papa S, Nik-Zainal S. Momen S, et al. Among authors: fassihi h. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004408. doi: 10.1101/mcs.a004408. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31645345 Free PMC article.
70 results