Jonathan D Picker

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. doi request reprint Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
    Juan Geng
    Department of Laboratory Medicine, Shanghai Children s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    BMC Genomics 15:1127. 2014
  2. pmc Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
    Heather M McLaughlin
    Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA
    BMC Med Genet 14:68. 2013
  3. ncbi request reprint Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia?
    Jonathan D Picker
    Department of Genetics, Harvard Medical School McLean Hospital, Belmont, MA, USA
    Harv Rev Psychiatry 13:197-205. 2005
  4. ncbi request reprint Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema
    Jonathan D Picker
    Divisions of Genetics and Neuropathology, Children s Hospital Boston, The Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA
    J Pediatr 142:349-52. 2003

Collaborators

  • Joseph T Coyle
  • Harvey L Levy
  • Juan Geng
  • Heather M McLaughlin
  • Amy E Roberts
  • Xiaoqing Zhang
  • Ann Seman
  • David W Brown
  • Zhaojing Zheng
  • Jian Wang
  • David T Miller
  • Mary P Mullen
  • Joan Stoler
  • Yiping Shen
  • Qihua Fu
  • David Harris
  • Fuki Hisama
  • Birgit Funke
  • Pamela P Hawley
  • Basil T Darras
  • Melissa A Kelly

Detail Information

Publications4

  1. doi request reprint Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
    Juan Geng
    Department of Laboratory Medicine, Shanghai Children s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    BMC Genomics 15:1127. 2014
    ..Furthermore, genes encompassed in pathogenic/likely pathogenic CNVs were prioritized by integrating several tools and public data sources for novel CHD candidate gene identification...
  2. pmc Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
    Heather M McLaughlin
    Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA
    BMC Med Genet 14:68. 2013
    ..To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant-negative effects. However, the complete genotypic spectrum of desminopathy is not well established...
  3. ncbi request reprint Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia?
    Jonathan D Picker
    Department of Genetics, Harvard Medical School McLean Hospital, Belmont, MA, USA
    Harv Rev Psychiatry 13:197-205. 2005
    ....
  4. ncbi request reprint Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema
    Jonathan D Picker
    Divisions of Genetics and Neuropathology, Children s Hospital Boston, The Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA
    J Pediatr 142:349-52. 2003
    ..The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects...