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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Wu C, Devkota B, Evans P, Zhao X, Baker SW, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock BL, Deardorff MA, Spinner NB, Krantz ID, Santani AB, Tayoun ANA, Sarmady M. Wu C, et al. Among authors: deardorff ma. Eur J Hum Genet. 2019 Apr;27(4):612-620. doi: 10.1038/s41431-018-0328-7. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626929 Free PMC article.
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. Liu J, et al. Among authors: deardorff ma. PLoS Biol. 2009 May 5;7(5):e1000119. doi: 10.1371/journal.pbio.1000119. Epub 2009 May 26. PLoS Biol. 2009. PMID: 19468298 Free PMC article.
Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Li JR, Clark D, Kaur M, Tatsuro K, Kline AD, Chang C, Vega H, Jackson LG, Spinner NB, Shirahige K, Krantz ID. Liu J, et al. Among authors: deardorff ma. Nucleic Acids Res. 2010 Sep;38(17):5657-71. doi: 10.1093/nar/gkq346. Epub 2010 May 6. Nucleic Acids Res. 2010. PMID: 20448023 Free PMC article.
187 results