Samuel P Strom

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
    Samuel P Strom
    Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA
    BMC Med Genet 13:67. 2012
  2. pmc Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
    Samuel P Strom
    1 Department of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA 2 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA
    Genet Med 16:510-5. 2014
  3. pmc Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
    Maria Carolina Ortube
    Department of Ophthalmology, Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, CA DS 2 545, USA
    BMC Med Genet 15:11. 2014
  4. pmc De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
    Samuel P Strom
    Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    BMC Med Genet 15:49. 2014

Collaborators

Detail Information

Publications4

  1. pmc Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
    Samuel P Strom
    Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA
    BMC Med Genet 13:67. 2012
    ..However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases...
  2. pmc Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
    Samuel P Strom
    1 Department of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA 2 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA
    Genet Med 16:510-5. 2014
    ..However, Sanger confirmation of low-quality single-nucleotide variants and all insertions or deletions <10 bp remains necessary at this time in our laboratory.Genet Med 16 7, 510-515. ..
  3. pmc Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
    Maria Carolina Ortube
    Department of Ophthalmology, Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, CA DS 2 545, USA
    BMC Med Genet 15:11. 2014
    ..This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became legally blind within a period of 2 years...
  4. pmc De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
    Samuel P Strom
    Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    BMC Med Genet 15:49. 2014
    ..MIM#: 605130]. Here we report two unrelated children for whom clinical exome sequencing of parent-proband trios was performed at UCLA, resulting in a molecular diagnosis of WSS and atypical clinical presentation...