Christa Lese Martin

Combinatorial effects of gene dosage, polygenic background and environment on complex traits

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dube-Associated Phenotypes in a Healthcare System Population

The paper estimates the prevalence of FLCN pathogenic variants and BHD-related phenotypes in a healthcare population, finding a higher frequency than previously reported and underdiagnosis of BHD.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

The paper was withdrawn due to lack of full author consent.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.