Robert Luke Nussbaum

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.

SPEER identifies abnormal mRNA splicing and assesses its clinical impact in hereditary cancer syndrome genetic testing, reclassifying variants of uncertain significance.

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

The paper examines the need for orthogonal confirmation of NGS-detected variants in clinical testing and develops criteria to identify false positives with high accuracy.

This paper develops a deep mutational scanning framework to map functional missense variants in human genes and applies it to four proteins, identifying pathogenic variants and showing scalability to disease genes.

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.