SNPtrio

Publications

Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. Am J Med Genet A. 2009 Feb 15;149A(4):669-80. PMID: 19253379

Roberson ED, Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. PLoS One. 2009 Aug 21;4(8):e6711. PMID: 19696932

Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. BMC Med Genet. 2009 Sep 17;10:93. PMID: 19761602

Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A. 2010 Jun;152A(6):1474-83. PMID: 20503323

Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet. 2011 Feb;19(2):235-8. PMID: 20823914

Vandeweyer G, Reyniers E, Wuyts W, Rooms L, Kooy RF. CNV-WebStore: online CNV analysis, storage and interpretation. BMC Bioinformatics. 2011 Jan 5;12:4. PMID: 21208430

Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A. Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. Eur J Hum Genet. 2011 May;19(5):555-60. PMID: 21326286

Shirley MD, Baugher JD, Stevens EL, Tang Z, Gerry N, Beiswanger CM, Berlin DS, Pevsner J. Chromosomal variation in lymphoblastoid cell lines. Hum Mutat. 2012 Jul;33(7):1075-86. PMID: 22374857

Baugher JD, Baugher BD, Shirley MD, Pevsner J. Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method. BMC Genomics. 2013 May 31;14:367. PMID: 23724825