Nicole J. Lake

The paper develops a method to detect and analyze NUMTs in human and non-human primate genomes, revealing their genomic features, population dynamics, and evolutionary implications.

The paper shows mitochondrial state in zebrafish tip cells encodes brain collateral network topology, with microRNA-125a regulating mitochondrial function to influence vascular resilience.

This study investigates the genetic basis of physical activity across different contexts and finds that leisure-time activity has distinct genetic influences and protective health effects.

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

This study shows that mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms when added to existing CHIP-based models.

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

This paper introduces SMuRF, a framework for deep mutational scanning in disease-related genes, generating functional scores for all coding variants and aiding in variant interpretation.

This study identifies that heteroplasmic mitochondrial mutations increase mortality risk and are linked to cancer incidence and outcomes, particularly leukemia.

The paper estimates the global and population-specific birth prevalence of LAMA2 congenital muscular dystrophy using population genetic data and Bayesian methods.

MitoVisualize provides a tool for analyzing and visualizing variants in human mitochondrial DNA, including their effects on RNA structures and locations within the circular mtDNA map.

The paper presents a pipeline to call mitochondrial DNA variants in gnomAD, reporting population frequencies for 10,850 unique mtDNA variants across 56,434 individuals.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.