Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Kathleen Mary Gorman

OC48 Re-Interrogation of Whole Exome Sequencing Data in Developmental Epileptic Encephalopathies

English

Related publications

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

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

Fundoscopy-Directed Genetic Testing to Re-Evaluate Negative Whole Exome Sequencing Results

Orphanet Journal of Rare Diseases

English

Clinical Application of Whole-Exome Sequencing

English

Accuracy of Short Tandem Repeats Genotyping Tools in Whole Exome Sequencing Data

Molecular Biology

English

Prediction and Prioritization of Neoantigens: Integration of RNA Sequencing Data With Whole-Exome Sequencing

Cancer Research

English

Ketogenic Diet in Epileptic Encephalopathies

Epilepsy Research and Treatment

English

Whole Exome Sequencing in Systemic Juvenile Idiopathic Arthritis

Pediatric Rheumatology

English

Whole-Exome Sequencing in the Investigation of Retinal Dystrophy

English