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Bone resorption in syndromes of the Ras/MAPK pathway.
Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M. Stevenson DA, et al. Among authors: viskochil dh. Clin Genet. 2011 Dec;80(6):566-73. doi: 10.1111/j.1399-0004.2010.01619.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204800 Free PMC article.
Disorders of the ras pathway: an introduction.
Viskochil DH. Viskochil DH. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):79-82. doi: 10.1002/ajmg.c.30301. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495180 No abstract available.
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. Gripp KW, et al. Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914166 Free PMC article.
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study; Bejerano G, Bernstein JA, Chitayat D. Balasubramanian M, et al. Among authors: viskochil dh. J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738187 Free article.
Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.
Margraf RL, VanSant-Webb C, Sant D, Carey J, Hanson H, D'Astous J, Viskochil D, Stevenson DA, Mao R. Margraf RL, et al. Among authors: d astous j, viskochil d. J Mol Diagn. 2017 May;19(3):468-474. doi: 10.1016/j.jmoldx.2017.01.008. J Mol Diagn. 2017. PMID: 28433079 Free PMC article.
267 results