Ann Marie Flenniken

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

The paper reports on the occurrence of tarsal injuries in male C57BL/6N mice across multiple international facilities, describing clinical signs and findings from radiographic and histological analyses.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

The paper introduces a method called soft windowing to improve analysis of high-throughput phenotyping data by reducing false positives and increasing significant results.

The paper provides a metabolomics dataset from 30 mouse gene knockouts and wildtypes, identifying 832 metabolites across multiple analytical methods.