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HGG Advances|January 20, 2022
An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoidPatrick R Blackburn, Jodi M Carter, Devin Oglesbee, et al.
The Journal of Biological Chemistry|January 7, 2017
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein FoldingPatrick R Blackburn, Alexander Tischer, Michael T Zimmermann, et al.
Annals of Neurology|July 7, 2021
Magnetic Resonance Imaging Correlates of Multiple Sclerosis Immunopathological PatternsImke Metz, Ralitza H Gavrilova, Stephen D Weigand, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective studyMuhammad Yasir Qureshi, Marc C Patterson, Vicki Clark, et al.
European Journal of Medical Genetics|November 29, 2019
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanismAditi Gupta, Nikita R Dsouza, Yuri A Zarate, et al.
Neuroimage. Clinical|December 26, 2023
Assessing network degeneration and phenotypic heterogeneity in genetic frontotemporal lobar degeneration by decoding FDG-PETNick Corriveau-Lecavalier, Leland R Barnard, Scott A Przybelski, et al.
JAMA Cardiology|June 17, 2026
AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical TrialRonald G Crystal, Jonathan W Weinsaft, Stephen M Kaminsky, et al.
Clinical Epigenetics|August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profileAndrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.
Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.
Mayo Clinic Proceedings|March 6, 2016
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic ExperienceKonstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, et al.
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