Scientific Posters and Publications

Learn more about what PerkinElmer Genomics is up to by reviewing our recent scientific posters and publications.

Poster Presentations

ACMG 2018

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)

 

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