V. Jayaraman

发表

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Somatic variation as an incidental finding in the pediatric next-generation sequencing era

E. Mardis, V. Magrini, Kristy Lee, 2021, Cold Spring Harbor molecular case studies.

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant

G. Herman, D. Bartholomew, Emily Hansen-Kiss, 2022, Journal of child neurology.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2015, Human Genomics.

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

R. Wilson, E. Mardis, D. Koboldt, 2020, Cold Spring Harbor molecular case studies.

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders

I. Krantz, N. Spinner, B. Devkota, 2018, American journal of hematology.

Profiling the effect of micronutrient levels on vital cardiac markers

V. Jayaraman, J. Rajasekaran, K. Krishna, 2023, medRxiv.

Insulin resistance in thyroid disorders: association between anti-TPO and HOMA-IR

V. Jayaraman, J. Rajasekaran, K. Krishna, 2023, medRxiv.

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements

Selene C. Koo, C. Cottrell, V. Jayaraman, 2023, Cancers.

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions

S. Hashimoto, D. Corsmeier, V. Jayaraman, 2023, Muscle & nerve.

Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant.

D. Koboldt, Kristy Lee, S. Rosenzweig, 2022, Rheumatology.