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Items: 11

1.

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.

BMC Cancer. 2017 Feb 13;17(1):127. doi: 10.1186/s12885-017-3127-6.

2.

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR.

Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31.

3.

Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.

Dewan R, Pemov A, Kim HJ, Morgan KL, Vasquez RA, Chittiboina P, Wang X, Chandrasekharappa SC, Ray-Chaudhury A, Butman JA, Stewart DR, Asthagiri AR.

Neuro Oncol. 2015 Apr;17(4):566-73. doi: 10.1093/neuonc/nou317. Epub 2014 Dec 1.

4.

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.

PLoS Genet. 2014 Oct 16;10(10):e1004575. doi: 10.1371/journal.pgen.1004575. eCollection 2014 Oct.

5.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

6.

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Stewart DR, Pemov A, Van Loo P, Beert E, Brems H, Sciot R, Claes K, Pak E, Dutra A, Lee CC, Legius E.

Genes Chromosomes Cancer. 2012 May;51(5):429-37. doi: 10.1002/gcc.21928. Epub 2012 Jan 17.

7.

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency.

Pemov A, Park C, Reilly KM, Stewart DR.

BMC Genomics. 2010 Mar 22;11:194. doi: 10.1186/1471-2164-11-194.

8.

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Brems H, Park C, Maertens O, Pemov A, Messiaen L, Upadhyaya M, Claes K, Beert E, Peeters K, Mautner V, Sloan JL, Yao L, Lee CC, Sciot R, De Smet L, Legius E, Stewart DR.

Cancer Res. 2009 Sep 15;69(18):7393-401. doi: 10.1158/0008-5472.CAN-09-1752. Epub 2009 Sep 8. Erratum in: Cancer Res. 2009 Oct 15;69(20):8216. Messia, Ludwine [corrected to Messiaen, Ludwine].

9.

A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Boley S, Sloan JL, Pemov A, Stewart DR.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5035-43. doi: 10.1167/iovs.09-3650. Epub 2009 Jun 10.

10.

DNA analysis with multiplex microarray-enhanced PCR.

Pemov A, Modi H, Chandler DP, Bavykin S.

Nucleic Acids Res. 2005 Jan 20;33(2):e11.

11.

Attachment to the nuclear matrix mediates specific alterations in chromatin structure.

Pemov A, Bavykin S, Hamlin JL.

Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14757-62.

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