I A Holm

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
    I A Holm
    Division of Genetics, Children s Hospital, Boston, MA 02115, USA
    Am J Hum Genet 60:790-7. 1997
  2. ncbi request reprint Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
    I A Holm
    Division of Endocrinology, Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 86:3889-99. 2001
  3. pmc Peripheral blood gene expression signature differentiates children with autism from unaffected siblings
    S W Kong
    Informatics Program at the Harvard Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children s Hospital, Boston, MA, 02115, USA
    Neurogenetics 14:143-52. 2013

Collaborators

Detail Information

Publications3

  1. pmc Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
    I A Holm
    Division of Genetics, Children s Hospital, Boston, MA 02115, USA
    Am J Hum Genet 60:790-7. 1997
    ....
  2. ncbi request reprint Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
    I A Holm
    Division of Endocrinology, Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 86:3889-99. 2001
    ..Furthermore, this study suggests that other genes and environmental factors affect the severity of hypophosphatemic rickets...
  3. pmc Peripheral blood gene expression signature differentiates children with autism from unaffected siblings
    S W Kong
    Informatics Program at the Harvard Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children s Hospital, Boston, MA, 02115, USA
    Neurogenetics 14:143-52. 2013
    ..Further integrative study with structural genetic variations such as de novo mutations, rare variants, and copy number variations would clarify whether these transcriptomic changes are structural or environmental in origin...