Denise Grant Lanza

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper maps the tissue tropism of ten AAV serotypes in mice after systemic delivery, identifying liver preference and unexpected transduction in adrenals, testes, and ovaries.

The paper analyzes 3,313 genetically engineered mouse lines to identify gene essentiality as the main factor affecting Cas9-based genome editing success.

The paper analyzes whole-genome sequencing data from Cas9-edited mice to assess off-target mutagenesis, finding minimal off-target activity across 163 guide RNAs.

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

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.

This study tests CRISPR/Cas9 with ssODNs and lssODNs for generating conditional knockout alleles in mice, finding higher efficiency with lssODNs.