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Journal of the American Academy of Dermatology|January 21, 2014
Primary and secondary intralymphatic histiocytosisFarrah Bakr, Naomi Webber, Hiva Fassihi, 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 Clinical Investigation|September 9, 2025
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophyYuka Nakazawa, Lin Ye, Yasuyoshi Oka, et al.
The Journal of Investigative Dermatology|May 20, 2006
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalitiesHiva Fassihi, Liu Lu, Vesarat Wessagowit, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
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 diseaseSophie Momen, Hiva Fassihi, Helen R Davies, et al.
Nature Communications|May 4, 2023
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patientsAndrey A Yurchenko, Fatemeh Rajabi, Tirzah Braz-Petta, et al.
Brain : a Journal of Neurology|December 1, 2023
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progressionHector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, et al.
The Journal of Investigative Dermatology|May 15, 2007
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expressionCeline Pourreyron, Georgie Cox, Xin Mao, et al.
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
The Journal of Investigative Dermatology|July 24, 2024
Skin Cancer Induction by the Antimycotic Drug Voriconazole Is Caused by Impaired DNA Damage Detection Due to Chromatin CompactionSara Giovannini, Lisa Weibel, Birgit Schittek, et al.
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