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Detectible mosaic truncating PPM1D mutations, age and breast cancer risk.
Machiela MJ, Myers TA, Lyons CJ, Koster R, Figg WD Jr, Colli LM, Jessop L, Ahearn TU, Freedman ND, García-Closas M, Chanock SJ. Machiela MJ, et al. Among authors: myers ta. J Hum Genet. 2019 Jun;64(6):545-550. doi: 10.1038/s10038-019-0589-1. Epub 2019 Mar 8. J Hum Genet. 2019. PMID: 30850729 Free PMC article.
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus.
Colli LM, Jessop L, Myers TA, Camp SY, Machiela MJ, Choi J, Cunha R, Onabajo O, Mills GC, Schmid V, Brodie SA, Delattre O, Mole DR, Purdue MP, Yu K, Brown KM, Chanock SJ. Colli LM, et al. Among authors: myers ta. Am J Hum Genet. 2021 Sep 2;108(9):1590-1610. doi: 10.1016/j.ajhg.2021.07.009. Epub 2021 Aug 13. Am J Hum Genet. 2021. PMID: 34390653 Free PMC article.
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity.
Long E, Yin J, Funderburk KM, Xu M, Feng J, Kane A, Zhang T, Myers T, Golden A, Thakur R, Kong H, Jessop L, Kim EY, Jones K, Chari R, Machiela MJ, Yu K; Melanoma Meta-Analysis Consortium; Iles MM, Landi MT, Law MH, Chanock SJ, Brown KM, Choi J. Long E, et al. Am J Hum Genet. 2022 Dec 1;109(12):2210-2229. doi: 10.1016/j.ajhg.2022.11.006. Epub 2022 Nov 23. Am J Hum Genet. 2022. PMID: 36423637 Free PMC article.
53 results