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| 2 | Café au lait spots: When and how to pursue their genetic origins. (Lalor L, Davies OMT, Basel D, Siegel DH) Clin Dermatol 2020;38(4):421-431 16 Citations |
| 1 | Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. (Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM) Hum Mutat 2020 Jan;41(1):299-315 80 Citations |
| 1 | Cell-of-origin susceptibility to glioblastoma formation declines with neural lineage restriction. (Alcantara Llaguno S, Sun D, Pedraza AM, Vera E, Wang Z, Burns DK, Parada LF) Nat Neurosci 2019 Apr;22(4):545-555 88 Citations |
| 1 | Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. (Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM) Genet Med 2019 Apr;21(4):867-876 61 Citations |
| 1 | Stat5 is critical for the development and maintenance of myeloproliferative neoplasm initiated by Nf1 deficiency. (Sachs Z, Been RA, DeCoursin KJ, Nguyen HT, Mohd Hassan NA, Noble-Orcutt KE, Eckfeldt CE, Pomeroy EJ, Diaz-Flores E, Geurts JL, Diers MD, Hasz DE, Morgan KJ, MacMillan ML, Shannon KM, Largaespada DA, Wiesner SM) Haematologica 2016 Oct;101(10):1190-1199 15 Citations |
| 1 | The Conundrum of Genetic "Drivers" in Benign Conditions. (Kato S, Lippman SM, Flaherty KT, Kurzrock R) J Natl Cancer Inst 2016 Aug;108(8) 106 Citations |
| 1 | Adult Lineage-Restricted CNS Progenitors Specify Distinct Glioblastoma Subtypes. (Alcantara Llaguno SR, Wang Z, Sun D, Chen J, Xu J, Kim E, Hatanpaa KJ, Raisanen JM, Burns DK, Johnson JE, Parada LF) Cancer Cell 2015 Oct 12;28(4):429-440 145 Citations |
| 3 | Whole-genome copy number variation analysis in anophthalmia and microphthalmia. (Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV) Clin Genet 2013 Nov;84(5):473-81 40 Citations |
| 1 | RAS/MEK-independent gene expression reveals BMP2-related malignant phenotypes in the Nf1-deficient MPNST. (Sun D, Haddad R, Kraniak JM, Horne SD, Tainsky MA) Mol Cancer Res 2013 Jun;11(6):616-27 11 Citations |
| 1 | Nf1 mutant mice with p19ARF gene loss develop accelerated hematopoietic disease resembling acute leukemia with a variable phenotype. (Wiesner SM, Geurts JL, Diers MD, Bergerson RJ, Hasz DE, Morgan KJ, Largaespada DA) Am J Hematol 2011 Jul;86(7):579-85 5 Citations |
| 1 | The role of neurofibromin in N-Ras mediated AP-1 regulation in malignant peripheral nerve sheath tumors. (Kraniak JM, Sun D, Mattingly RR, Reiners JJ Jr, Tainsky MA) Mol Cell Biochem 2010 Nov;344(1-2):267-76 12 Citations |
| 1 | GDNF-induced leukemia inhibitory factor can mediate differentiation via the MEK/ERK pathway in pheochromocytoma cells derived from nf1-heterozygous knockout mice. (Park JI, Powers JF, Tischler AS, Strock CJ, Ball DW, Nelkin BD) Exp Cell Res 2005 Feb 01;303(1):79-88 16 Citations |
| 1 | Opening of compacted chromatin by early developmental transcription factors HNF3 (FoxA) and GATA-4. (Cirillo LA, Lin FR, Cuesta I, Friedman D, Jarnik M, Zaret KS) Mol Cell 2002 Feb;9(2):279-89 924 Citations |
