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Nature Cardiovascular Research|August 28, 2024
A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiationArun Padmanabhan, T Yvanka de Soysa, Angelo Pelonero, et al.
Plos Genetics|November 20, 2020
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profilesAlejandro Martin-Trujillo, Nihir Patel, Felix Richter, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 18, 2022
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populationsDaniel Quiat, Seong Won Kim, Qi Zhang, et al.
Medical Image Analysis|March 23, 2025
Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart diseaseHyeokjin Kwon, Seungyeon Son, Sarah U Morton, et al.
Nature Communications|July 12, 2019
Paternal-age-related de novo mutations and risk for five disordersJacob L Taylor, Jean-Christophe P G Debost, Sarah U Morton, et al.
American Journal of Human Genetics|April 9, 2022
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease riskJon A L Willcox, Joshua T Geiger, Sarah U Morton, et al.
Iscience|January 29, 2025
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impactEnrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, et al.
The Journal of Clinical Investigation|June 3, 2024
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypesDavid M McKean, Qi Zhang, Priyanka Narayan, et al.
Communications Medicine|February 6, 2026
Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart diseaseMohammad Arafat Hussain, Sheng He, Heather R Adams, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Genome admixture analysis of 1,030 Ugandan infants with neonatal sepsis and hydrocephalus demonstrates geographical stratification of population disease riskMercedeh Movassagh, Lucinda Newbury, Christine Hehnly, et al.
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