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

Poster Presentations

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 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

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)

Catch-up on recent publications from the PerkinElmer Genomics team.

Recent Manuscripts

Khadilkar SV, Chaudhari AD, Singla MB, Dastur RS, Gaitonde PS, Bhutada AG, Hegde MR. Early and Consistent Pattern of Proximal Weakness in GNE Myopathy. Muscle Nerve. 2020 Nov 16. doi: 10.1002/mus.27117. Epub ahead of print. PMID: 33197058.

Chakravorty S, Nallamilli B, Khadilkar S, Singla MB, et al., Hegde M Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. (2020) Front. Neurol. 2020 Nov 5. doi: 10.3389/fneur.2020.559327 PMID: 33250842 PMCID: PMC7674836

Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2020 Oct 22. doi: 10.1038/s41436-020-00996-9. Epub ahead of print. PMID: 33087887.

Nallamilli BRR, Chakravorty S, Kesari A, Bean L, Hegde M. Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. (2020) Ann Clin Transl Neurol. 2020 Oct 15. doi: 10.1002/acn3.51192. PMID: 33058423 PMCID: PMC7732248

Chaubey A, Shenoy S, Mathur A, Ma Z, Valencia CA, Reddy Nallamilli BR, Szekeres E Jr, Stansberry L, Liu R, Hegde MR. Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray. J Mol Diagn. 2020 Jun;22(6):823-840. PMID: 32344035

Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22. PMID: 32092541

Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. PMID: 31931849; PMCID: PMC6958675.

Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M. Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. Muscle Nerve. 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486.  PMID:30990900 PMCID: PMC7688010

Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V, Rojiani A, Kolhe R. Effective optimization of SARS-CoV-2 laboratory testing variables in an era of supply chain constraints. Future Microbiol. 2020 Nov 12:1483-1487. doi: 10.2217/fmb-2020-0094. Epub ahead of print. PMID: 33179525.

Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V, Rojiani A, Kolhe R. Proposal of RT-PCR-Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019). J Mol Diagn. 2020 Oct;22(10):1294-1299.  Epub 2020 Jul 30. PMID: 32738299