Revvity Omics Scientific Publications

Revvity Omics Scientific Publications

Review our recent scientific abstracts and posters to learn more about Revvity Omics scientific contributions.

Revvity, Inc. does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country-specific recommendations, please consult your local health care professionals.

Clinical genomics publications

1. 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.

2. 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

3. 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.

4. 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

5. 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

6. 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

7. 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.

8. 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

9. King, L. S., Pan, Y., Nallamilli, B. R. R., Hegde, M., Lakshmanan, J., Ramachander, V., … & Colzani, R. (2023). Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis. Molecular Genetics and Metabolism, 107565.

10. Nallamilli, B. R. R., Pan, Y., Sniderman King, L., Jagannathan, L., Ramachander, V., Lucas, A., Markind, J., Colzani, R., & Hegde, M. (2023). Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies. Annals of clinical and translational neurology, 10.1002/acn3.51896. Advance online publication. PMID: 37688281

11. Balciuniene, J., Liu, R., Bean, L., Guo, F., Nallamilli, B. R. R., Guruju, N., Chen-Deutsch, X., Yousaf, R., Fura, K., Chin, E., Mathur, A., Ma, Z., Carmichael, J., da Silva, C., Collins, C., & Hegde, M. (2023). At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children. JAMA network open, 6(7), e2326445. PMID: 37523181 PMCID: PMC10391308

COVID19 publications

1. 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.

2. 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 

APHL/ISNS2023

1. One Extraction, Two Molecular Tests: NeoMDx™cCMV Real-Time PCR Assay

2. Detection of Congenital Cytomegalovirus in Saliva from oral swabs using NeoMDx™cCMV Real-time PCR Reagent Kit

ACMG 2024

1. Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease

2. Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders

3. Beyond Single Nucleotide Variants and Copy Number Variations: Spinal Muscular Atrophy and Repeat Expansion Disorders Screening by Whole Genome Sequencing

4. Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis

5. Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing

6. Genomic breakpoint analysis facilitates identification of complex rearrangements and re classification of non-tandem duplications in the DMD gene: Implications for prenatal testing and new therapeutics.

7. Co-segregation of a Rare GLA Variant of Uncertain Significance within Two Multiplex Families Facilitates Variant Reclassification to Pathogenic

ACMG 2023

1. Unparalleled power of whole genome sequencing (WGS) in screening ostensibly healthy newborns and children: findings from the first real-world dataset

2. Development of a Hemolysis Index for Vanadis® cfDNA NIPT Sample Acceptance

3. Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients

4. How Does Multiomics Help Variant Reclassification?

5. Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping.

6. Recognizing the Promise and Potential Pitfalls of Genomic Medicine Through Routine Rapid Whole Genome Sequencing

7. Real-World Evidence Demonstrating Why Genome Sequencing Should Be Recommended as the First-Tier Genetic Test

8. Measuring Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)

9. Importance Of Parental Segregation Studies and its Role in Variant Classification

10. Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

11. Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients

12. Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

13. Resolving clinically relevant short read deficient homologous sequences in the human genome using a novel CRISPR-CAS mediated targeted long read sequencing method

14. Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders

15. Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian cancer syndrome, and Lynch syndrome

16. Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance

ACMG 2022

1. Measurement of Nicotinamide Adenine Dinucleotide from Dried Blood Spot Cards

2. Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic- challenges and successes

3. Next-Generation Sequencing Testing in Identification and Differential Diagnosis of Hereditary Anemia due to Erythrocyte Membrane Disorders, Enzymopathies and Related Disorders

4. Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized

5. Repeat expansion disorders screening by WGS: strategy and stumbling blocks

6. Application of Whole Exome sequencing in identifying sequence variants and copy number variants in phenotypic females with disorders of sexual development (DSD).

7. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping

8. A Diverse Set of Case Presentation Highlight the Power of Whole Genome Sequencing – What Next?

9. Fast Forward – Is Multiomics a resurgence of old?

10. Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention

11. Tackling the COVID-19 Pandemic by Utilizing Next Generation Sequencing Technologies

12. Diagnostic Yield and Clinical Utility of Nephrolithiasis and Primary Hyperoxaluaria Sequencing panels

13. Improved Vanadis® cfDNA Platform for Detection of T13 T18 and T21 and Sex Chromosome Abnormalities

14. Universal Newborn Screening of Congenital Cytomegalovirus using Dried Blood Spots and qPCR

15. A united front on tackling a pandemic – the true value of industry and govt partnership

16. Detection of Congenital Cytomegalovirus Infection on High-Risk Newborn Population

ACMG 2021

1. Towards Implementation Whole Genome Sequencing as a First Tier Test in Genomic Testing

2. Fascioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping

3. Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia

4. Newborn Screening Second Tier Molecular Testing is Critical for Identifying True Positives in Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy

5. Genetic basis of Oculopharyngeal Muscular Dystrophy: Detection of Alanine repeats in PABPN1 gene by Next Generation Sequencing

6. Reducing The Time To Diagnosis For Spinal Muscular Atrophy

7. Extending and Adapting the Functions of Genetic Laboratories During the COVID-19 Pandemic- Challenges and Successes

8. Non-Invasive Prenatal Screening by Vanadis LifeCycle® Platform

9. Global Approach to Prenatal Testing

ACMG 2020

1. Whole Genome Sequencing as a Screening Tool in Healthy Population: Lesson learned from 110 cases

2. Insights Derived From The First 500+ Clinical Cases Run Utilizing Low Pass Genome Sequencing (LP-GS) As An Alternative To Traditional Microarray

3. Newborn Screening Second Tier Molecular Testing for Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy is Critical for Identifying True Positives

4. Direct Effects of Inbreeding: Increased Burden of Rare Genetic Disorders in Indian Sub-continent

5. High Resolution Analysis Of D4Z4 Repeat Regions For Studying Facioscapulohumeral Muscular Dystrophy (FSHD) Using Whole Genome Optical Mapping

6. Whole Genome Sequencing Improves Clinical Diagnosis in Patients with a Suspected Genetic Disorder(s): Diagnostic yield from 386 cases

7. Rolling Circle Replication Based, Non-Invasive Prenatal (NIPT) Assay Offers A Globally Accessible, High Precision, And Low-cost Prenatal Aneuploidy Screen

8. Utilizing Advanced Genomic Technologies to Identify Dual Diagnoses

9. Testing reportedly healthy individuals for a panel of 59 medically actionably genes: are 59 genes enough?

ACMG 2019

1. Mosaicism, De Novo Occurrence and Subclinical Parents: Lessons Learned From Two-Year ABCD1 Second-Tier Confirmatory Testing

2. Shining a light on diagnosis of rare genetic disorders: the lantern project

3. Utility of Metabolomics Screening in Familial Hypercholesterolemia in Combination with Genetic Diagnosis

4. Genomic screening for hereditary cancer syndromes in 22,033 individuals

5. Comprehensive Clinical Grade Whole Genome Sequencing Significantly Improves Diagnostic Yield in Sick Neonates and Pediatric Suspected of a Genetic Disorder

6. 5X WGS assay as a more sensitive and cost-effective method to replace microarray in a diagnostic setting: Experience from the first 100 cases

ACMG 2018

1. Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from a Dried Blood Spot via LC-MS/MS

2. A qPCR Assay for Newborn Screening of Spinal Muscular Atrophy (SMA)

ASHG 2022

1. High diagnostic yield from clinical genome sequencing supports genome sequencing as the first-tier genetic test: Evidence-based from 2100 index cases

2. Whole genome sequencing is a powerful “one-stop shop” screening assay for uncovering undiagnosed conditions in apparently healthy pediatric cohort

NSGC 2019

1. Insights Derived From The First 500+ Clinical Cases Run Utilizing Low Pass Genome Sequencing (LP-GS) As An Alternative To Traditional Microarray

2. Experience from the First 330 Cases of Low Pass Genome Sequencing (5X) Demonstrates Clinical Utility and Provides Potential Alternative to Traditional Microarray in the Clinical Settings

3. Utilization of Whole Genome Sequencing to Improve Diagnostic Yield in Patients with a Suspected Genetic Disorders

Myology congress 2022

1. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping

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