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» Authors » Vijayakumar Jayaraman

Vijayakumar Jayaraman

Explore the profile of Vijayakumar Jayaraman including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 13
Citations 263
Followers 0
Related Specialties
Genetics
General Medicine
Oncology
Top 10 Co-Authors
Catherine E Cottrell
Ramakrishnan Rajagopalan
Kristy Lee
Laura K Conlin
Ian D Krantz
Mari Mori
Matthew C Dulik
Sawona Biswas
Elaine R Mardis
Sasha H Shafikhani
Published In
Cold Spring Harb Mol Case Stud
J Med Microbiol
Hum Genomics
Genet Med
Rheumatology (Oxford)
Affiliations
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Recent Articles
1.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions
Meyer A, Ma J, Brock G, Hashimoto S, Cottrell C, Mathew M, et al.
Muscle Nerve . 2023 Oct; 68(6):833-840. PMID: 37789688
Introduction/aims: Exome sequencing (ES) has proven to be a valuable diagnostic tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this study were to investigate the...
2.
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements
Schieffer K, Moccia A, Bucknor B, Stonerock E, Jayaraman V, Jenkins H, et al.
Cancers (Basel) . 2023 Sep; 15(17). PMID: 37686670
Gene fusions are a form of structural rearrangement well established as driver events in pediatric and adult cancers. The identification of such events holds clinical significance in the refinement, prognostication,...
3.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant
Lecerf K, Koboldt D, Kuehn H, Jayaraman V, Lee K, Mosher T, et al.
Rheumatology (Oxford) . 2022 Apr; 62(1):347-359. PMID: 35412596
Objective: To explore and define the molecular cause(s) of a multi-generational kindred affected by Bechet's-like mucocutaneous ulcerations and immune dysregulation. Methods: Whole genome sequencing and confirmatory Sanger sequencing were performed....
4.
Phenotypic Spectrum in a Family Sharing a Heterozygous Variant
Arredondo K, Myers C, Hansen-Kiss E, Mathew M, Jayaraman V, Siemon A, et al.
J Child Neurol . 2022 Apr; 37(6):517-523. PMID: 35384780
Background And Purpose: Mutations in have classically been associated with benign familial neonatal and infantile seizures and more recently identified in patients with neurodevelopmental disorders and abnormal electroencephalogram (EEG) findings....
5.
Somatic variation as an incidental finding in the pediatric next-generation sequencing era
Melas M, Mathew M, Mori M, Jayaraman V, Wilson S, Martin C, et al.
Cold Spring Harb Mol Case Stud . 2021 Oct; 7(6). PMID: 34716204
The methodologic approach used in next-generation sequencing (NGS) affords a high depth of coverage in genomic analysis. Inherent in the nature of genomic testing, there exists potential for identifying genomic...
6.
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience
Miller C, Lee K, Pfau R, Reshmi S, Corsmeier D, Hashimoto S, et al.
Cold Spring Harb Mol Case Stud . 2020 May; 6(3). PMID: 32371413
Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of...
7.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
Sheppard S, Biswas S, Li M, Jayaraman V, Slack I, Romasko E, et al.
Genet Med . 2018 Jun; 20(12):1663-1676. PMID: 29907799
Purpose: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting...
8.
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders
Romasko E, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik M, et al.
Am J Hematol . 2017 Sep; 93(1):8-16. PMID: 28960434
Inherited platelet disorders (IPD) are a heterogeneous group of rare disorders that affect platelet number and function and often predispose to other significant medical complications. In spite of the identification...
9.
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
de Kovel C, Syrbe S, Brilstra E, Verbeek N, Kerr B, Dubbs H, et al.
JAMA Neurol . 2017 Aug; 74(10):1228-1236. PMID: 28806457
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians...
10.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
Li M, Abrudan J, Dulik M, Sasson A, Brunton J, Jayaraman V, et al.
Hum Genomics . 2015 Jul; 9:15. PMID: 26187847
Background: Conditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural and...