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Page 1
NF1 Somatic Mutation in Dystrophic Scoliosis.
Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson DA. Margraf RL, et al. Among authors: vansant webb c. J Mol Neurosci. 2019 May;68(1):11-18. doi: 10.1007/s12031-019-01277-0. Epub 2019 Feb 18. J Mol Neurosci. 2019. PMID: 30778836
Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.
Feusier JE, Arunachalam S, Tashi T, Baker MJ, VanSant-Webb C, Ferdig A, Welm BE, Rodriguez-Flores JL, Ours C, Jorde LB, Prchal JT, Mason CC. Feusier JE, et al. Among authors: vansant webb c. Blood Cancer Discov. 2021 May;2(3):226-237. doi: 10.1158/2643-3230.BCD-20-0094. Epub 2021 Mar 3. Blood Cancer Discov. 2021. PMID: 34027416 Free PMC article.
Phospholipid isotope tracing reveals β-catenin-driven suppression of phosphatidylcholine metabolism in hepatocellular carcinoma.
VanSant-Webb C, Low HK, Kuramoto J, Stanley CE, Qiang H, Su A, Ross AN, Cooper CG, Cox JE, Summers SA, Evason KJ, Ducker GS. VanSant-Webb C, et al. bioRxiv [Preprint]. 2023 Oct 16:2023.10.12.562134. doi: 10.1101/2023.10.12.562134. bioRxiv. 2023. Update in: Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Aug;1869(6):159514. doi: 10.1016/j.bbalip.2024.159514. PMID: 37904922 Free PMC article. Updated. Preprint.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Among authors: vansant webb c. J Med Genet. 2018 Dec;55(12):824-830. doi: 10.1136/jmedgenet-2018-105561. Epub 2018 Sep 22. J Med Genet. 2018. PMID: 30244195
Phospholipid isotope tracing suggests β-catenin-driven suppression of phosphatidylcholine metabolism in hepatocellular carcinoma.
VanSant-Webb C, Low HK, Kuramoto J, Stanley CE, Qiang H, Su AY, Ross AN, Cooper CG, Cox JE, Summers SA, Evason KJ, Ducker GS. VanSant-Webb C, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Aug;1869(6):159514. doi: 10.1016/j.bbalip.2024.159514. Epub 2024 May 23. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38795827
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P. Wooderchak-Donahue W, et al. Among authors: vansant webb c. Am J Med Genet A. 2015 Aug;167A(8):1747-57. doi: 10.1002/ajmg.a.37085. Epub 2015 May 5. Am J Med Genet A. 2015. PMID: 25944730
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: vansant webb c. 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.