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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. Schwartz CE, et al. Among authors: risheg h. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16. J Med Genet. 2007. PMID: 17369503 Free PMC article.
Clinical comparison of overlapping deletions of 19p13.3.
Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA. Risheg H, et al. Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923. Am J Med Genet A. 2013. PMID: 23610052
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: risheg h. 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
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: risheg h. 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
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: risheg h. 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.
15 results