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Submitted by admin on June 23, 2011 - 3:08pm
A free resource that provides access to information and support for individuals and families living with developmental disabilities.
Found 35 results
Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. 2009. 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.. American journal of medical genetics. Part A. 149A(4):669-80.
Pevsner J. 2009. Analysis of genomic DNA with the UCSC genome browser.. Methods in molecular biology (Clifton, N.J.). 537:277-301.
Ting JC, Roberson EDO, Currier DG, Pevsner J. 2009. Locations and patterns of meiotic recombination in two-generation pedigrees.. BMC medical genetics. 10:93.
Roberson EDO, Pevsner J. 2009. Visualization of shared genomic regions and meiotic recombination in high-density SNP data.. PloS one. 4(8):e6711.
Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I. 2008. Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays.. The annals of applied statistics. 2(2):687-713.
Scharpf RB, Ting JC, Pevsner J, Ruczinski I. 2007. SNPchip: R classes and methods for SNP array data.. Bioinformatics (Oxford, England). 23(5):627-8.
Watkins PA, Maiguel D, Jia Z, Pevsner J. 2007. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.. Journal of lipid research. 48(12):2736-50.
Ting JC, Roberson EDO, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. 2007. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.. Human mutation. 28(12):1225-35.
Mao R, Pevsner J. 2005. The use of genomic microarrays to study chromosomal abnormalities in mental retardation.. Mental retardation and developmental disabilities research reviews. 11(4):279-85.
Polster BM, Pevsner J, Hardwick MJ. 2004. Viral Bcl-2 homologs and their role in virus replication and associated diseases.. Biochimica et biophysica acta. 1644(2-3):211-27.
Masayesva BG, Ha P, Garrett-Mayer E, Pilkington T, Mao R, Pevsner J, Speed T, Benoit N, Moon C-S, Sidransky D et al.. 2004. Gene expression alterations over large chromosomal regions in cancers include multiple genes unrelated to malignant progression.. Proceedings of the National Academy of Sciences of the United States of America. 101(23):8715-20.