Strom, Charles "Buck", MD, PhD, FAAP, FACMG, HCLD
Vice President, Genetics and Genomics
Quest Diagnostics Nichols Institute
San Juan Capistrano, CA
Expert Insight:
Cell-free Fetal DNA Testing - The Benefits of Accurate Non-Invasive Prenatal Testing
Publication:
Maternal Chromosome Xp Deletion Identified by Prenatal Cell-free DNA Screening.
Publication:
A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.
Publication:
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).
Publication:
Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
Publication:
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory
Publication:
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD
Publication:
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Publication:
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
Publication:
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Publication:
Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.
Publication:
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
Publication:
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Publication:
The importance of beta globin deletion analysis in the evaluation of patients with beta thalassemia.
