First Personal Genomics Product Will Focus on 59 Genes Identified by the American College of...
Learn more about what PerkinElmer Genomics is up to by reviewing our recent scientific posters and publications.
Lin et al. A qPCR Assay for Newborn Screening of Spinal Muscular Atrophy (SMA).
Liu et al. ABCD1 Molecular Testing For Second-Tier Confirmatory Newborn Screening.
Smith et al. Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from a Dried Blood Spot via LC-MS/MS.
Leighton et al. Global Trends in Genomic Medicine: Lessons learned and best practices from US, China and India.
Wang et al. Newborn screening second tier molecular testing: What are we learning from MPS I and Pompe disease?
Nallamilli et al. Largest Gene-panel Sequencing Effort Including 4656 Patients Reveals Genetic Landscape of Limb-Girdle Muscular Dystrophies and Potential Multi-genic Inheritance.
Valencia et al. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data.
Tanner et al. From Newborn Screening to Newborn Genome Sequencing: Combining the Power of WGS with Cord Blood Storage Through the Generation™ Program.
Kesari et al. Calpainopathy-Changing Paradigm of mode of inheritance.
Irzyk et al. Clinical whole genome sequencing: a validation study.
Collins et al. Clinical grade whole genome sequencing data from various samples types: dried blood spot, whole blood, saliva and tumor tissue.
Ma et al. Preliminary study for whole genome sequencing from dried blood spots using high throughput linked-read sequencing compared to short read sequencing
Ruosaari et al. Screening of Metabolic Disorder using NMR Metabolomics and Whole Genome Sequencing. (Partner Poster)