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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathyAndre E Minoche, Claire Horvat, Renee Johnson, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Frontiers in Genetics|April 30, 2019
Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric FunctionsSimon A Hardwick, Samuel D Bassett, Dominik Kaczorowski, et al.
Nature Biotechnology|May 14, 2021
Quantitative profiling of pseudouridylation dynamics in native RNAs with nanopore sequencingOguzhan Begik, Morghan C Lucas, Leszek P Pryszcz, et al.
Genome Research|December 14, 2005
Experimental validation of the regulated expression of large numbers of non-coding RNAs from the mouse genomeTimothy Ravasi, Harukazu Suzuki, Ken C Pang, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 14, 2020
Structural venomics reveals evolution of a complex venom by duplication and diversification of an ancient peptide-encoding geneSandy S Pineda, Yanni K-Y Chin, Eivind A B Undheim, et al.
The EMBO Journal|August 29, 2024
Human genomic DNA is widely interspersed with i-motif structuresCristian David Peña Martinez, Mahdi Zeraati, Romain Rouet, et al.
Molecular Microbiology|February 22, 2005
Pseudomonas aeruginosa fimL regulates multiple virulence functions by intersecting with Vfr-modulated pathwaysCynthia B Whitchurch, Scott A Beatson, James C Comolli, et al.
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