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CLINICAL:
Molecular diagnostics of inherited and acquired disorders.
RESEARCH:
Modifier genes in cystic fibrosis; developing technologies in genomics and proteomics; epigenetics.
REFERENCES:
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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study by the Fragile Xperts. J Mol. Diagnostics. In Press.
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Margaret L. Gulley, MD; Rita M. Braziel, MD; Kevin C. Halling, MD, PhD; Eric D. Hsi, MD; Jeffrey A. Kant, MD, PhD; Marina N. Nikiforova, MD; Jan A. Nowak, MD, PhD; Shuji Ogino, MD, PhD; Andre Oliveira, MD; Herbert F. Polesky, MD; Lawrence Silverman, PhD; Raymond R. Tubbs, DO; Vivianna M. Van Deerlin, MD, PhD; Gail H. Vance, MD; James Versalovic, MD, PhD; for the Molecular Pathology Resource Committee, College of American Pathologists. Clinical Laboratory Reports in Molecular Pathology. Archives of Pathology and Laboratory Medicine: Vol. 131, No. 6, pp. 852-863, 2006.
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Silverman, LM, and Mifflin TE, Genotype-Phenotype Correlations (II): Assessing the Influence of Sequence Variants on the Clinical Phenotype in Multifactorial Disorders. Clin Chem 51, 929-930, 2005.
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Silverman, LM and Mahadevan M. Genotype-Phenotype Correlations: Assessing the influence of sequence variants on the clinical phenotype. Clin Chem 51, #1, 8, 2005.
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Highsmith, WE, Friedman, KF, Silverman, LM, and Knowles, MR. A mutation (D1152H) in CFTR with mild lung disease and normal sweat chloride. Clinical Genetics Clin Genet, 68: 88-90, 2005
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Sugarman, EA, Rohlfs, EM, Silverman, LM, and Allitto, BA. CFTR mutation distribution among U.S. Hispanic and African-American individuals: Evaluation in cystic fibrosis patient and carrier screening populations. Genetics in Medicine, 6(#5), 392-399 2004.
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Shaheen, NJ, Silverman, LM, Keku,T, Lawrence LB, Rohlfs, EM, Martin, CF, Galenko, J, and Sandler, RS. Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer. J National Cancer Institute, 95 (#2), 154-159, 2003.
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Hurford MT, Marshall-Taylor C, Vicki SL, Zhou JZ, Silverman LM, Rezuke WN, Altman A, Tsongalis GJ. A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. Clin Chim Acta. 2002 Jul; 321(1-2):49-53.
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Rohlfs, EM, Zhou, A, Sugarman, EA, Heim, RA, Pace, RG, Knowles, MR, Silverman, LM, and Allitto, BA. The I148T CFTR Mutations Confers a Variable Phenotype and Occurs on Multiple Haplotypes. Genetics in Medicine. 4(5), 2002, 319-323.
A current list of Dr. Silverman's journal publications can be obtained from PubMed