Scientific Posters and Publications

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

Poster Presentations

ACMG 2019

Poster 102: Donti et al. Utility of Metabolomics Screening in Familial Hypercholesterolemia in Combination with Genetic Diagnosis

Poster 103: Lui et al. Mosaicism, De Novo Occurrence and Subclinical Parents: Lessons Learned From Two-Year ABCD1 Second-Tier Confirmatory Testing

Poster 203: Collins et al. Genomic screening for hereditary cancer syndromes in more than 7,000 reportedly healthy individuals

Poster 727: Lin et al. Long Range PCR sequencing on GBA, CYP21A2, and ABCD1 genes using DBS Specimens

Poster 671: Chaubey et al. 5X WGS assay as a more sensitive and cost-effective method to replace microarray in a diagnostic setting: Experience from the first 100 cases

Poster 673: Hegde et al. Comprehensive Clinical grade whole genome sequencing significantly improves diagnostic yield in in sick neonates and pediatric patients suspected of a genetic disorder

Poster 691: Kesari et al. Shining a Light on Diagnosis of Rare Genetic Disorders: The Lantern Project

Poster 694: Nallamilli et al. Results from comprehensive NGS based assay lays the foundation for the DMD newborn screening

Poster 695: Xie et al. Integrated Analyses of Sequence Variant, Copy Number Variant and Absence of Heterozygosity from a Singular Assay Demonstrate Improved Diagnostic Yield in >1000 Cases

Poster 697: Wang et al. Pseudodeficiency Alleles, Late-onset Diseases, Equivocal Biochemical Screens: Lessons Learned from Newborn Screening Second Tier Molecular Testing for Lysosomal Storage Diseases

Poster 774: Valencia et. al. CNGnomeTM: Compared to CMA, higher resolution detection of copy number variant (CNV) by low coverage whole genome data

Poster 812: Smith et al. Comprehensive Clinical Testing for Spinal Muscular Atrophy (SMA)

Poster 959: Hegde et al. Whole Genome Sequencing (WGS) in the Healthy Newborns and Adults- Results from first 150 cases

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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