Learn more about what PerkinElmer Genomics is up to by reviewing our recent scientific abstracts and posters.
Poster Presentations
eP032 Measurement of nicotinamide adenine dinucleotide from dried blood spot cards
eP355 Repeat expansion disorders screening by WGS: strategy and stumbling blocks
eP372 Fast forward – is multiomics a resurgence of old?
eP411 Tackling the COVID-19 pandemic by utilizing next generation sequencing technologies
eP469 Improved Vanadis® cfDNA platform for detection of T13, T18 and sex chromosome abnormalities
eP487 Universal newborn screening of congenital cytomegalovirus using dried blood spots and qPCR
eP490 A united front on tackling a pandemic – the true value of industry and government partnerships
eP498 Detection of congenital cytomegalovirus infection on high-risk newborn population
eP368: Towards Implementation Whole Genome Sequencing as a First Tier Test in Genomic Testing
eP370: Facioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping
eP394: Genome and Exome Analysis for Detection of Coding and Non-Coding Sequencing and Copy Number Variants in Disorders of Sexual Development (DSD)
eP412: Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia
eP433: Reducing the Time to Diagnosis for Spinal Muscular Atrophy
eP491: Non-invasive prenatal screening by Vanadis LifeCycle® Platform
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