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Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Among authors: joshi va. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
Genetics and genomics in the practice of medicine.
Joshi VA, Kucherlapati R. Joshi VA, et al. Gastroenterology. 2008 May;134(5):1284-8. doi: 10.1053/j.gastro.2008.03.046. Gastroenterology. 2008. PMID: 18471501 Review. No abstract available.
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. Cirstea IC, et al. Among authors: joshi va. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6. Nat Genet. 2010. PMID: 19966803 Free PMC article.
Lung cancer genetics and pharmacogenomics.
Joshi VA, Kucherlapati R. Joshi VA, et al. Cytogenet Genome Res. 2006;115(3-4):298-302. doi: 10.1159/000095927. Cytogenet Genome Res. 2006. PMID: 17124413
Epidermal growth factor receptor mutation testing in the care of lung cancer patients.
Sequist LV, Joshi VA, Jänne PA, Bell DW, Fidias P, Lindeman NI, Louis DN, Lee JC, Mark EJ, Longtine J, Verlander P, Kucherlapati R, Meyerson M, Haber DA, Johnson BE, Lynch TJ. Sequist LV, et al. Among authors: joshi va. Clin Cancer Res. 2006 Jul 15;12(14 Pt 2):4403s-4408s. doi: 10.1158/1078-0432.CCR-06-0099. Clin Cancer Res. 2006. PMID: 16857818 Review.
Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.
Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S; Colon Cancer Family Registry. Yurgelun MB, et al. Among authors: joshi va. JAMA Oncol. 2015 May;1(2):214-21. doi: 10.1001/jamaoncol.2015.0197. JAMA Oncol. 2015. PMID: 26086041 Free PMC article.
Selection of a platform for mutation detection.
Joshi VA, Mancini-DiNardo D, Funke BH. Joshi VA, et al. Curr Protoc Hum Genet. 2008 Jan;Chapter 7:Unit 7.15. doi: 10.1002/0471142905.hg0715s56. Curr Protoc Hum Genet. 2008. PMID: 18428425
28 results