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JAMA Cardiology|November 13, 2024
Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3Joseph Park, Michael G Levin, David Zhang, et al.BMC Pediatrics|May 17, 2020
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parentsJuliann M Savatt, Jennifer K Wagner, Steven Joffe, et al.Journal of the American Heart Association|June 29, 2023
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data ScreeningSamuel S Gidding, H Lester Kirchner, Andrew Brangan, et al.Journal of Neurosurgery. Spine|March 25, 2023
Spinopelvic sagittal compensation in adult cervical deformityJichao Ye, Sean M Rider, Renaud Lafage, et al.European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society|March 17, 2023
Distal junctional kyphosis in adult cervical deformity patients: where does it occur?Jichao Ye, Sean M Rider, Renaud Lafage, et al.Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.Biorxiv : the Preprint Server for Biology|January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.Brain Communications|February 15, 2021
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathiesNathan L Absalom, Vivian W Y Liao, Kavitha Kothur, et al.Pediatrics|March 25, 2015
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcomeSekhar C Pillai, Yael Hacohen, Esther Tantsis, et al.Ebiomedicine|September 29, 2022
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroidsJingya Yan, Kavitha Kothur, Emily A Innes, et al.Pageof 42