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The Journal of Clinical Investigation|April 3, 2012
Activation of ER stress and mTORC1 suppresses hepatic sortilin-1 levels in obese miceDing Ai, Juan M Baez, Hongfeng Jiang, et al.Cell Stem Cell|December 18, 2014
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9Pankaj K Mandal, Leonardo M R Ferreira, Ryan Collins, et al.Cell Reports|December 24, 2016
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and FibrosisJ Travis Hinson, Anant Chopra, Andre Lowe, et al.Nature Communications|July 14, 2021
In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage diseaseSourav K Bose, Brandon M White, Meghana V Kashyap, et al.American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksNina B Gold, Hana Zouk, Julie Yeo, et al.American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.Nature Biomedical Engineering|October 29, 2025
Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAsMadelynn N Whittaker, Lauren C Testa, Aidan Quigley, et al.European Journal of Human Genetics : EJHG|September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrumVéronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.Circulation|April 18, 2015
Future translational applications from the contemporary genomics era: a scientific statement from the American Heart AssociationCaroline S Fox, Jennifer L Hall, Donna K Arnett, et al.Pageof 22