All Content By Author


Strom, Charles "Buck", MD, PhD, FAAP, FACMG, HCLD

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.