Jason D. Heaney

Multi-omic profiling reveals impaired luteal resolution and CHK2-regulated inflammation in ovarian aging

This study identifies impaired luteal resolution and CHK2-regulated inflammation as features of ovarian aging in mice, showing that CHK2 inhibition can reverse these effects.

Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

Establishing Comprehensive Transthoracic Echocardiography Reference Ranges for Mouse Models: Insights into the Impact of Anesthesia, Sex, and Age

This study establishes TTE reference ranges for mice, showing anesthesia significantly affects cardiac function, with minimal sex differences and modest age-related changes.

A Comprehensive Atlas of AAV Tropism in the Mouse

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.

Whole genome analysis for 163 guide RNAs in Cas9 edited mice reveals minimal off-target activity

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.

Mendelian gene identification through mouse embryo viability screening

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

A resource of targeted mutant mouse lines for 5,061 genes

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

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.

Human and mouse essentiality screens as a resource for disease gene discovery

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.

Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data

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

Employing single-stranded DNA donors for the high-throughput production of conditional knockout alleles in mice

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