Gerard T Berry

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi Galactosemia: when is it a newborn screening emergency?
    Gerard T Berry
    The Manton Center for Orphan Disease Research, Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Mol Genet Metab 106:7-11. 2012
  2. ncbi Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
    Gerard T Berry
    Division of Genetics, Children s Hospital Boston, Center for Life Sciences Building, Boston, MA, 02115, USA
    J Inherit Metab Dis 34:345-55. 2011
  3. ncbi Galactosemia and amenorrhea in the adolescent
    Gerard T Berry
    Division of Genetics, Children s Hospital Boston, Boston, Masschusetts 02115, USA
    Ann N Y Acad Sci 1135:112-7. 2008
  4. ncbi Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies
    Yijun Li
    The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    Mol Genet Metab 102:33-40. 2011
  5. ncbi Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue
    Yijun Li
    Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    J Chromatogr B Analyt Technol Biomed Life Sci 879:998-1002. 2011
  6. ncbi The adult galactosemic phenotype
    Susan E Waisbren
    Children s Hospital Boston, Boston, MA, USA
    J Inherit Metab Dis 35:279-86. 2012
  7. ncbi Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry
    Yijun Li
    The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Clin Chem 56:772-80. 2010
  8. ncbi Exploring concordance and discordance for return of incidental findings from clinical sequencing
    Robert C Green
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Genet Med 14:405-10. 2012
  9. ncbi Back to the future: from genome to metabolome
    Joseph V Thakuria
    Department of Genetics, Harvard Medical School, Boston, MA 02114, USA
    Hum Mutat 33:809-12. 2012
  10. ncbi Epimerase-deficiency galactosemia is not a binary condition
    Kimberly K Openo
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 78:89-102. 2006

Collaborators

Detail Information

Publications11

  1. ncbi Galactosemia: when is it a newborn screening emergency?
    Gerard T Berry
    The Manton Center for Orphan Disease Research, Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Mol Genet Metab 106:7-11. 2012
    ..The purpose of this review is to help the clinician make the correct therapeutic decision after an NBS test has returned positive for galactosemia...
  2. ncbi Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
    Gerard T Berry
    Division of Genetics, Children s Hospital Boston, Center for Life Sciences Building, Boston, MA, 02115, USA
    J Inherit Metab Dis 34:345-55. 2011
    ..If myo-inositol deficiency is found to exist in the GALT-deficient fetal brain, then the use of myo-inositol to treat the fetus via oral supplementation of the pregnant female may warrant consideration...
  3. ncbi Galactosemia and amenorrhea in the adolescent
    Gerard T Berry
    Division of Genetics, Children s Hospital Boston, Boston, Masschusetts 02115, USA
    Ann N Y Acad Sci 1135:112-7. 2008
    ....
  4. ncbi Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies
    Yijun Li
    The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    Mol Genet Metab 102:33-40. 2011
    ..No GALK activity was detected in a GALK deficient sample we analyzed. Lastly, we tested the feasibility of adapting this LC-MS/MS based GALT/GALK assay as a newborn screening (NBS) test...
  5. ncbi Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue
    Yijun Li
    Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    J Chromatogr B Analyt Technol Biomed Life Sci 879:998-1002. 2011
    ..p.) injection of bumetanide, and were used to calculate bumetanide permeability through the blood-brain barrier...
  6. ncbi The adult galactosemic phenotype
    Susan E Waisbren
    Children s Hospital Boston, Boston, MA, USA
    J Inherit Metab Dis 35:279-86. 2012
    ..Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression...
  7. ncbi Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry
    Yijun Li
    The Manton Center for Orphan Disease Research, Division of Genetics, Department of Pediatrics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Clin Chem 56:772-80. 2010
    ..We developed a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay for GALT enzyme activity measurement...
  8. ncbi Exploring concordance and discordance for return of incidental findings from clinical sequencing
    Robert C Green
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Genet Med 14:405-10. 2012
    ..The aim of this study was to explore specific conditions and types of genetic variants that specialists in genetics recommend should be returned as incidental findings in clinical sequencing...
  9. ncbi Back to the future: from genome to metabolome
    Joseph V Thakuria
    Department of Genetics, Harvard Medical School, Boston, MA 02114, USA
    Hum Mutat 33:809-12. 2012
    ..Our initial focus targets 88 genes involved in 68 metabolic disturbances with established evidence-based nutritional and/or pharmacological therapy as part of standard medical care...
  10. ncbi Epimerase-deficiency galactosemia is not a binary condition
    Kimberly K Openo
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 78:89-102. 2006
    ..Long-term follow-up studies of these and other patients will be required to elucidate the clinical significance of these biochemical abnormalities and the potential impact of dietary intervention on outcome...
  11. ncbi Extended [13C]galactose oxidation studies in patients with galactosemia
    Gerard T Berry
    Department of Pediatrics, Division of Human Genetics and Molecular Biology and the Metabolic Research Laboratory, University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, PA 19104, USA
    Mol Genet Metab 82:130-6. 2004
    ..This capacity enables the galactosemic to maintain a balance of galactose disposal with the galactose burden imposed by endogenous formation and dietary intake...