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Molecular Cell|October 10, 2023
APE1-dependent base excision repair of DNA photodimers in human cellsAmit Gautam, Heather Fawcett, Kamila Burdova, et al.
Clinical Genetics|January 3, 2026
Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group GElena Botta, Heather Fawcett, Donata Orioli, et al.
Nucleic Acids Research|January 31, 2009
A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)Siripan Limsirichaikul, Atsuko Niimi, Heather Fawcett, et al.
Pediatrics|October 1, 2021
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy OverlapAdesoji Abiona, Nuno Cordeiro, Heather Fawcett, et al.
DNA Repair|March 11, 2008
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyWim J Kleijer, Vincent Laugel, Mark Berneburg, et al.
The Journal of Investigative Dermatology|September 26, 2025
A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma PigmentosumAnita van den Heuvel, Annelotte P Wondergem, Mihyun Kim, et al.
The Journal of Investigative Dermatology|June 29, 2005
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical featuresMitsuo Fujimoto, Suzanne N Leech, Therina Theron, et al.
Journal of Medical Genetics|March 25, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndromeNadege Calmels, Elena Botta, Nan Jia, et al.
The Journal of Allergy and Clinical Immunology|August 10, 2015
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiencyChaowan Guo, Yuka Nakazawa, Lisa Woodbine, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 5, 2002
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patientsBernard C Broughton, Agnes Cordonnier, Wim J Kleijer, et al.
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