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Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.
Papenhausen P, Kelly CA, Zhang Z, Tepperberg J, Burnside RD, Schwartz S. Papenhausen P, et al. Among authors: schwartz s. Cancer Genet. 2019 Feb;231-232:1-13. doi: 10.1016/j.cancergen.2018.12.002. Epub 2018 Dec 12. Cancer Genet. 2019. PMID: 30803551
Clinical significance and mechanisms associated with segmental UPD.
Papenhausen PR, Kelly CA, Harris S, Caldwell S, Schwartz S, Penton A. Papenhausen PR, et al. Among authors: schwartz s. Mol Cytogenet. 2021 Jul 20;14(1):38. doi: 10.1186/s13039-021-00555-0. Mol Cytogenet. 2021. PMID: 34284807 Free PMC article.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Among authors: schwartz s. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.
UPD detection using homozygosity profiling with a SNP genotyping microarray.
Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD, Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J. Papenhausen P, et al. Among authors: schwartz s. Am J Med Genet A. 2011 Apr;155A(4):757-68. doi: 10.1002/ajmg.a.33939. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594998
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Burnside RD, et al. Among authors: schwartz s. Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495222
5,630 results