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Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.
Pemov A, Sung H, Hyland PL, Sloan JL, Ruppert SL, Baldwin AM, Boland JF, Bass SE, Lee HJ, Jones KM, Zhang X; NISC Comparative Sequencing Program; Mullikin JC, Widemann BC, Wilson AF, Stewart DR. Pemov A, et al. PLoS Genet. 2014 Oct 16;10(10):e1004575. doi: 10.1371/journal.pgen.1004575. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25329635 Free PMC article.
Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung H, Hyland PL, Pemov A, Sabourin JA, Baldwin AM, Bass S, Teshome K, Luo W; Frederick National Laboratory for Cancer Research; Widemann BC, Stewart DR, Wilson AF. Sung H, et al. Among authors: pemov a. Mol Genet Genomic Med. 2020 Oct;8(10):e1400. doi: 10.1002/mgg3.1400. Epub 2020 Aug 31. Mol Genet Genomic Med. 2020. PMID: 32869517 Free PMC article.
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
Pemov A, Li H, Patidar R, Hansen NF, Sindiri S, Hartley SW, Wei JS, Elkahloun A, Chandrasekharappa SC; NISC Comparative Sequencing Program; Boland JF, Bass S; NCI DCEG Cancer Genomics Research Laboratory; Mullikin JC, Khan J, Widemann BC, Wallace MR, Stewart DR. Pemov A, et al. Oncogene. 2017 Jun 1;36(22):3168-3177. doi: 10.1038/onc.2016.464. Epub 2017 Jan 9. Oncogene. 2017. PMID: 28068329 Free PMC article.
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Dewan R, Pemov A, Dutra AS, Pak ED, Edwards NA, Ray-Chaudhury A, Hansen NF, Chandrasekharappa SC, Mullikin JC, Asthagiri AR; NISC Comparative Sequencing Program; Heiss JD, Stewart DR, Germanwala AV. Dewan R, et al. Among authors: pemov a. BMC Cancer. 2017 Feb 13;17(1):127. doi: 10.1186/s12885-017-3127-6. BMC Cancer. 2017. PMID: 28193203 Free PMC article.
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.
Pemov A, Hansen NF, Sindiri S, Patidar R, Higham CS, Dombi E, Miettinen MM, Fetsch P, Brems H, Chandrasekharappa SC, Jones K, Zhu B, Wei JS; National Intramural Sequencing Center (NISC) Comparative Sequencing Program; National Cancer Institute (NCI) Division of Cancer Epidemiology and Genetics (DCEG) Cancer Genomics Research Laboratory; Mullikin JC, Wallace MR, Khan J, Legius E, Widemann BC, Stewart DR. Pemov A, et al. Neuro Oncol. 2019 Aug 5;21(8):981-992. doi: 10.1093/neuonc/noz028. Neuro Oncol. 2019. PMID: 30722027 Free PMC article.
26 results