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American Journal of Medical Genetics. Part A|December 10, 2023
Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variantsHelen M Stanley, Brian R White, Christopher J LaRosa, et al.Ophthalmic Genetics|July 26, 2023
Cryptophthalmos: associated syndromes and genetic disordersDaphna Landau-Prat, Diana H Kim, Sana Bautista, et al.Journal of Inherited Metabolic Disease|December 10, 2024
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine diseaseJessica I Gold, Alanna Strong, Nina B Gold, et al.Cell Stem Cell|April 10, 2012
Generation of multipotent lung and airway progenitors from mouse ESCs and patient-specific cystic fibrosis iPSCsHongmei Mou, Rui Zhao, Richard Sherwood, et al.Molecular Therapy. Nucleic Acids|December 9, 2025
Liver-directed base editing of ABCC6 prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticumLauren C Testa, Dora Obiri-Yeboah, Hooda Said, et al.Oncotarget|February 18, 2016
Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotesLisa Ott de Bruin, Wei Yang, Kelly Capuder, et al.JCI Insight|November 15, 2019
Investigation of a dilated cardiomyopathy-associated variant in BAG3 using genome-edited iPSC-derived cardiomyocytesChris McDermott-Roe, Wenjian Lv, Tania Maximova, et al.Molecular Therapy. Nucleic Acids|December 16, 2025
Base editing strategies for in vivo correction of two highly recurrent phenylketonuria variantsAidan Quigley, Ishaan Jindal, Thomas Campion, et al.American Journal of Medical Genetics. Part A|May 25, 2023
TOPORS as a novel causal gene for Joubert syndromeAlanna Strong, Hui-Qi Qu, Sinéad Cullina, et al.Cell Stem Cell|July 5, 2014
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencingAdrian Veres, Bridget S Gosis, Qiurong Ding, et al.Pageof 22