Eleanor G. Seaby
Broad Institute(US)University of Southampton(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics, Anatomy and Medical Technology
Most-Cited Works
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,856 cited
- → Treatment of Multisystem Inflammatory Syndrome in Children(2021)361 cited
- → Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis(2015)248 cited
- → Transcript expression-aware annotation improves rare variant interpretation(2020)200 cited
- → Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance(2020)181 cited
- → Genome Sequencing for Diagnosing Rare Diseases(2024)160 cited
- → Exome sequencing explained: a practical guide to its clinical application(2015)113 cited
- → Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency(2020)112 cited
- → Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans(2021)97 cited