Jessica X Chong

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. pmc A population-based study of autosomal-recessive disease-causing mutations in a founder population
    Jessica X Chong
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 91:608-20. 2012
  2. pmc A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites
    Jessica X Chong
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Eur J Hum Genet 19:1045-51. 2011
  3. pmc Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals
    Lawrence H Uricchio
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Epidemiol 36:312-9. 2012
  4. pmc Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
    Minal Caliskan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 20:1285-9. 2011

Collaborators

Detail Information

Publications4

  1. pmc A population-based study of autosomal-recessive disease-causing mutations in a founder population
    Jessica X Chong
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 91:608-20. 2012
    ....
  2. pmc A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites
    Jessica X Chong
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Eur J Hum Genet 19:1045-51. 2011
    ..Lastly, we show that 26 SNPs can be used to predict SMA carrier status in the Hutterites, with 99.86% specificity and 99.71% sensitivity...
  3. pmc Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals
    Lawrence H Uricchio
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Epidemiol 36:312-9. 2012
    ..99. As expected, many variants that are vanishingly rare in European populations have risen to larger frequencies in the founder population and would be amenable to single-SNP analyses...
  4. pmc Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
    Minal Caliskan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 20:1285-9. 2011
    ..Our results reveal the value of massively parallel sequencing for identification of novel disease genes that could not be found using traditional approaches and identifies only the seventh causal mutation for autosomal recessive NSMR...