Gerard T Berry

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Fertility preservation in female classic galactosemia patients
    Britt van Erven
    Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, The Netherlands
    Orphanet J Rare Dis 8:107. 2013
  2. doi request reprint 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
  3. doi request reprint 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. doi request reprint 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
  5. pmc 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
  6. doi request reprint Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report
    Hannah C Kinney
    Department of Pathology, Boston Children s Hospital and Harvard Medical School, Enders Building 1112, 300 Longwood Avenue, Boston, MA, 02115, USA
    Forensic Sci Med Pathol 9:418-21. 2013
  7. pmc The adult galactosemic phenotype
    Susan E Waisbren
    Children s Hospital Boston, Boston, MA, USA
    J Inherit Metab Dis 35:279-86. 2012
  8. pmc 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
  9. pmc Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
    Marlin Touma
    Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Epilepsia 54:e81-5. 2013
  10. pmc Targeted exome sequencing of suspected mitochondrial disorders
    Daniel S Lieber
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA
    Neurology 80:1762-70. 2013

Collaborators

Detail Information

Publications15

  1. pmc Fertility preservation in female classic galactosemia patients
    Britt van Erven
    Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, The Netherlands
    Orphanet J Rare Dis 8:107. 2013
    ..We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age. ..
  2. doi request reprint 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...
  3. doi request reprint 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. doi request reprint 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...
  5. pmc 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...
  6. doi request reprint Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report
    Hannah C Kinney
    Department of Pathology, Boston Children s Hospital and Harvard Medical School, Enders Building 1112, 300 Longwood Avenue, Boston, MA, 02115, USA
    Forensic Sci Med Pathol 9:418-21. 2013
    ..This report alerts the forensic community to the possibility that sudden and unexplained death in infants may be due to seizures. ..
  7. pmc 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...
  8. pmc 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...
  9. pmc Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
    Marlin Touma
    Division of Newborn Medicine, Boston Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Epilepsia 54:e81-5. 2013
    ..In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin...
  10. pmc Targeted exome sequencing of suspected mitochondrial disorders
    Daniel S Lieber
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA
    Neurology 80:1762-70. 2013
    ..To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity...
  11. pmc 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...
  12. doi request reprint 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...
  13. pmc 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...
  14. pmc 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...
  15. ncbi request reprint 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...