Pascale Richard Source Confirmed

OverviewAI-generated summary

Pascale Richard's research centers on understanding the genetic and molecular underpinnings of various human diseases, with a particular focus on cardiovascular conditions and rare genetic disorders. Her work investigates the complex relationships between genetic mutations and disease phenotypes, aiming to identify novel risk models and diagnostic approaches. Recent publications include studies on shared genetic pathways contributing to hypertrophic and dilated cardiomyopathies, the development of a risk model for arrhythmias in non-ischemic dilated cardiomyopathy, and the genotype-phenotype correlations in left ventricular noncompaction associated with ion channel gene mutations.

Richard also contributes to research on rare syndromes, such as Dunnigan lipodystrophy syndrome and congenital myasthenic syndromes. Her group's investigations involve systematic analyses of gene variants, like those in SCN5A, associated with inherited cardiac diseases, and the identification of gene involvement in conditions such as hypertrophic cardiomyopathy through large cohort studies. Her scholarship metrics include an h-index of 57, over 367 publications, and more than 11,900 citations, reflecting a significant body of work in her field. She leads a research group and collaborates with researchers from institutions including Lyon College and the University of Arkansas at Little Rock.

Metrics

• h-index: 57
• Publications: 367
• Citations: 11,913