Publications by authors named "Isabel Garrood"

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XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
Hiva Fassihi, Shehla Mohammed, Yuka Nakazawa, Heather Fawcett, Sally Turner, Isabel Garrood

J Clin Invest· November 2025

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Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar

Brain· December 2023

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Neurological and cognitive outcomes after antibody-negative autoimmune encephalitis in children.
Jonathan Gadian, Michael Eyre, Ele Konstantoulaki, Ani Almoyan, Michael Absoud, Isabel Garrood

Dev Med Child Neurol· May 2022

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An investigation of the predictors of photoprotection and UVR dose to the face in patients with XP: a protocol using observational mixed methods.
Jessica Walburn, Robert Sarkany, Sam Norton, Lesley Foster, Myfanwy Morgan, Isabel Garrood

BMJ Open· August 2017

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Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan Wing, Natalie Chandler, Isabel Garrood

Proc Natl Acad Sci U S A· March 2016

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