Steven F Dobrowolski

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. doi Altered DNA methylation in PAH deficient phenylketonuria
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, United States Electronic address
    Mol Genet Metab 115:72-7. 2015
  2. pmc Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012
  3. doi Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
    Molly F Wood
    Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Muscle Nerve 49:822-8. 2014

Collaborators

  • Jerry Vockley
  • Thomas W Prior
  • Molly F Wood
  • M Michael Barmada
  • Sarah C Hughes
  • Lauren P Hache
  • David E Stickler
  • Paula R Clemens
  • Edwin W Naylor
  • Hoda Z Abdel-Hamid

Detail Information

Publications3

  1. doi Altered DNA methylation in PAH deficient phenylketonuria
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, United States Electronic address
    Mol Genet Metab 115:72-7. 2015
    ..Aberrant methylation is observed in leukocytes of PKU patients and is influenced by PHE exposure. DNA methylation may provide a biomarker relating to historic PHE exposure. ..
  2. pmc Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012
    ..To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients...
  3. doi Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
    Molly F Wood
    Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Muscle Nerve 49:822-8. 2014
    ..We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA)...