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Publications by Reuben J Pengelly

Erratum To: A SNP Profiling Panel for Sample Tracking in Whole-Exome Sequencing Studies

Genome Medicine

Molecular Medicine

Molecular Biology

English

High-Throughput PRPF31 Variant Characterisation Pipeline Consistent With ACMG/AMP Clinical Variant Interpretation Guidelines

English

Related publications

A Stroke Gene Panel for Whole-Exome Sequencing

European Journal of Human Genetics

English

Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

English

Clinical Cancer Genomic Profiling by Three-Platform Sequencing of Whole Genome, Whole Exome and Transcriptome

Nature Communications

Molecular Biology

English

Clinical Application of Whole-Exome Sequencing

English

Whole-Exome Sequencing and microRNA Profiling Reveal PI3K/AKT Pathway’s Involvement in Juvenile Myelomonocytic Leukemia

Quantitative Biology

Molecular Biology

Applied Mathematics

Computer Science Applications

English

Whole Exome Sequencing for Handedness in a Large and Highly Consanguineous Family

Neuropsychologia

Cognitive Neuroscience

Behavioral Neuroscience

Cognitive Psychology

English

Whole Exome Sequencing in Systemic Juvenile Idiopathic Arthritis

Pediatric Rheumatology

English

Indications and Outcomes of Rapid Turn Around Time Whole Exome Sequencing Studies

Forensic Medicine

English