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Page 1
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Job F, Mizumoto S, Smith L, Couser N, Brazil A, Saal H, Patterson M, Gibson MI, Soden S, Miller N, Thiffault I, Saunders C, Yamada S, Hoffmann K, Sugahara K, Farrow E. Job F, et al. Among authors: gibson mi. BMC Med Genet. 2016 Nov 21;17(1):86. doi: 10.1186/s12881-016-0344-9. BMC Med Genet. 2016. PMID: 27871226 Free PMC article.
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF. Twist GP, et al. NPJ Genom Med. 2017 Jan 11;2:16039. doi: 10.1038/npjgenmed.2016.39. eCollection 2017. NPJ Genom Med. 2017. PMID: 29266105 Free PMC article.
Clinical genome sequencing in an unbiased pediatric cohort.
Thiffault I, Farrow E, Zellmer L, Berrios C, Miller N, Gibson M, Caylor R, Jenkins J, Faller D, Soden S, Saunders C. Thiffault I, et al. Genet Med. 2019 Feb;21(2):303-310. doi: 10.1038/s41436-018-0075-8. Epub 2018 Jul 16. Genet Med. 2019. PMID: 30008475 Free PMC article.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Cohen ASA, et al. Genet Med. 2022 Jun;24(6):1336-1348. doi: 10.1016/j.gim.2022.02.007. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305867 Free article.
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation.
Crow J, Samuel G, Farrow E, Gibson M, Johnston J, Guest E, Miller N, Pei D, Koestler D, Pathak H, Liang X, Mangels C, Godwin AK. Crow J, et al. Biomark Insights. 2022 Oct 31;17:11772719221132693. doi: 10.1177/11772719221132693. eCollection 2022. Biomark Insights. 2022. PMID: 36341281 Free PMC article.
219 results