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2004 1
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64 results

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: fassihi h. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Menck CFM, Sarasin A, Nikolaev SI. Yurchenko AA, et al. Among authors: fassihi h. Nat Commun. 2023 May 4;14(1):2561. doi: 10.1038/s41467-023-38311-0. Nat Commun. 2023. PMID: 37142601 Free PMC article.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Among authors: fassihi h. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 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.
Primary and secondary intralymphatic histiocytosis.
Bakr F, Webber N, Fassihi H, Swale V, Lewis F, Rytina E, Ben-Zvi GT, Norris P, Espinosa O, Dhar S, Craig P, Robson A. Bakr F, et al. Among authors: fassihi h. J Am Acad Dermatol. 2014 May;70(5):927-33. doi: 10.1016/j.jaad.2013.11.024. Epub 2014 Jan 17. J Am Acad Dermatol. 2014. PMID: 24440319 Review.
Broad-spectrum abnormal localized photosensitivity syndrome.
Butt S, Khalid A, Alani A, Fityan A, Fassihi H, Dawe R, Ibbotson S. Butt S, et al. Among authors: fassihi h. J Am Acad Dermatol. 2021 Nov;85(5):1298-1300. doi: 10.1016/j.jaad.2020.08.119. Epub 2020 Sep 4. J Am Acad Dermatol. 2021. PMID: 32896592 Free PMC article. No abstract available.
Prenatal diagnosis of epidermolysis bullosa.
Fassihi H, McGrath JA. Fassihi H, et al. Dermatol Clin. 2010 Apr;28(2):231-7, viii. doi: 10.1016/j.det.2010.02.001. Dermatol Clin. 2010. PMID: 20447485 Review.
64 results