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Items: 9

1.

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB.

Clin Genet. 2011 May;79(5):468-74. doi: 10.1111/j.1399-0004.2010.01495.x.

PMID:
20735442
2.

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y.

Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342.

3.

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Anastasaki C, Estep AL, Marais R, Rauen KA, Patton EE.

Hum Mol Genet. 2009 Jul 15;18(14):2543-54. doi: 10.1093/hmg/ddp186. Epub 2009 Apr 17.

4.

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

Estep AL, Palmer C, McCormick F, Rauen KA.

PLoS One. 2007 Dec 5;2(12):e1279.

5.

Identification of a robust gene signature that predicts breast cancer outcome in independent data sets.

Korkola JE, Blaveri E, DeVries S, Moore DH 2nd, Hwang ES, Chen YY, Estep AL, Chew KL, Jensen RH, Waldman FM.

BMC Cancer. 2007 Apr 11;7:61.

6.

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA.

Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26.

7.

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.

Am J Med Genet A. 2006 Jan 1;140(1):8-16.

PMID:
16372351
8.

Differentiation of lobular versus ductal breast carcinomas by expression microarray analysis.

Korkola JE, DeVries S, Fridlyand J, Hwang ES, Estep AL, Chen YY, Chew KL, Dairkee SH, Jensen RM, Waldman FM.

Cancer Res. 2003 Nov 1;63(21):7167-75.

9.

Optimizing stringency for expression microarrays.

Korkola JE, Estep AL, Pejavar S, DeVries S, Jensen R, Waldman FM.

Biotechniques. 2003 Oct;35(4):828-35.

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