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American Journal of Human Genetics|November 24, 2022
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificityErping Long, Jinhu Yin, Karen M Funderburk, et al.American Journal of Human Genetics|August 3, 2021
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHRMai Xu, Lindsey Mehl, Tongwu Zhang, et al.Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
Large distant deletion disrupts CDKN2A enhancer and predisposes to melanomaPeter A Johansson, Kelly Brooks, Jane M Palmer, et al.Biorxiv : the Preprint Server for Biology|May 8, 2026
Functional characterization of the 9q34.13 locus identifies <i>RAPGEF1</i> as modulating risk for melanoma and nevi via RAS activationRohit Thakur, Mai Xu, Alexandra M Thornock, et al.Medrxiv : the Preprint Server for Health Sciences|June 12, 2026
Disruption of CTCF binding by germline non-coding variants in <i>CDKN2B</i> suppress <i>CDKN2A</i> expression and predispose to melanomaJessica L Scales, Jayne A Barbour, Alisa M Goldstein, et al.Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locusAidan O'Brien, Hyunkyung Kong, Harsh Patel, et al.Research Square|May 25, 2026
A high-penetrance intergenic variant at 9p21 confers melanoma susceptibilityMaria Teresa Landi, Linh Bui-Raborn, Lorenza Pastorino, et al.Nature Communications|January 13, 2021
Tumor-infiltrating mast cells are associated with resistance to anti-PD-1 therapyRajasekharan Somasundaram, Thomas Connelly, Robin Choi, et al.Nature|January 17, 2020
B cells and tertiary lymphoid structures promote immunotherapy responseBeth A Helmink, Sangeetha M Reddy, Jianjun Gao, et al.Pageof 2