Steven F. Dobrowolski, PhD

View Dr. Dobrowolski's publications on PubMed

• Dujols V, Kusukawa N, McKinney JT, Dobrowolski SF, Wittwer CT (2006) High-resolution melting analysis for scanning and genotyping., in Real Time PCR. Tevfik D, ed.
• Dobrowolski SF, E Ellingson C, Caldovic L, Tuchman M. (2007) Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mut. 28(11):1133-1140
• Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL. (2007) Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Gen Metab. 91(3):218-227.
• Gundry CN, Dobrowolski SF, Martin YR, Robbins TC, Nay LM, Boyd N, Coyne T, Wall MD, Wittwer CT, Teng DH. (2008) Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons. Nucleic Acids Res. 36(10):3401-3408.
• Mitchel S, Dobrowolski SF, Tuchman M, Coyne T, Summar M. (2009) Genetic Variation in the Urea Cycle: A Model Resource for Investigating Key Candidate Genes for Common Diseases. Hum Mut. 30(1):56-60.
• Dobrowolski SF, Pey AL, Koch R, Levy HL, Ellingson C, Naylor EW, Martinez A. (2009) Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlate to clinical presentation in hyperphenylalanemic patients. J Inherited Met Dis 32;1-21.
• Kaput J, Cotton RGH, Hardman L, Dobrowolski SF et al. (2009) Planning the Human Variome Project: The Spain Report. Hum Mut. 30:4, 496–510.
• Dobrowolski SF, Borski K, Ellingson C; Koch R, Levy H, Naylor EW. (2009) A limited spectrum of severe phenylalanine hydroxylase mutations observed in phenylketonuria patients in western Poland and the implications to treatment with 6R tetrahydrobiopterin. J Hum Genet. 54(6):335-9
• Dobrowolski SF, Gray J, Ellingson C. (2009) Identifying sequence variants in the human mitochondrial genome using high resolution melting for variant scanning and specific genotyping. Hum Mut. 30:6, 891–898
• Dobrowolski SF, Andersen HS, Andresen BS (2010) The PAH c.30C>G synonymous variation is a pathological mutation that functions by creating a common splicing silencer motif. Mol Gen Metab. 100:4, 316-23.
• Olsen RJ, Dobrowolski SF, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, Andresen BS. (2010) High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. J Inherited Met Dis. 33:3, 247-60.
• Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gokcay G, Baykal T, Thony B, Demirkol M, Blau N (2011) Molecular Genetics and Impact of residual Phenylalanine Hydroxylase Activity on Tetrahydrobiopterin-Responsiveness in Turkish PKU Population. Mol Gen Metab. 102:2 116-21.