Experts and Doctors on hematologic diseases in Toronto, Ontario, Canada

Summary

Locale: Toronto, Ontario, Canada
Topic: hematologic diseases

Top Publications

  1. Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002;10:250-8 pubmed
    ..These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS...
  2. Boocock G, Morrison J, Popovic M, Richards N, Ellis L, Durie P, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101 pubmed publisher
  3. Silverman E, Jaeggi E. Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 2010;72:223-5 pubmed publisher
    ..Overall, non-cardiac involvement of NLE is more common than cardiac. The study of these manifestations may lead to new insight into how autoantibodies lead to disease. ..
  4. Butcher D, Cytrynbaum C, Turinsky A, Siu M, Inbar Feigenberg M, Mendoza Londono R, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017;100:773-788 pubmed publisher
    ..Our findings demonstrate how characterization of the epigenome can contribute to our understanding of disease pathophysiology for epigenetic disorders, paving the way for explorations of novel therapeutics. ..

Scientific Experts

Detail Information

Publications4

  1. Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002;10:250-8 pubmed
    ..These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS...
  2. Boocock G, Morrison J, Popovic M, Richards N, Ellis L, Durie P, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101 pubmed publisher
  3. Silverman E, Jaeggi E. Non-cardiac manifestations of neonatal lupus erythematosus. Scand J Immunol. 2010;72:223-5 pubmed publisher
    ..Overall, non-cardiac involvement of NLE is more common than cardiac. The study of these manifestations may lead to new insight into how autoantibodies lead to disease. ..
  4. Butcher D, Cytrynbaum C, Turinsky A, Siu M, Inbar Feigenberg M, Mendoza Londono R, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017;100:773-788 pubmed publisher
    ..Our findings demonstrate how characterization of the epigenome can contribute to our understanding of disease pathophysiology for epigenetic disorders, paving the way for explorations of novel therapeutics. ..