Samuel P Strom
Affiliation: University of California
- Molecular diagnosis of putative Stargardt Disease probands by exome sequencingSamuel 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...
- Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratorySamuel 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..We sought to assess the accuracy of next-generation sequencing variant identification in our clinical genomics laboratory with the goal of establishing a quality score threshold for confirmatory Sanger-based testing...
- Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophyMaria 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...
- De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencingSamuel 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...
- De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Am J Hum Genet 96:498-506. 2015..Through histone and non-histone acetylation, KAT6A affects multiple cellular processes and illustrates the complex role of acetylation in regulating development and disease...