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Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Molecular Therapy. Methods & Clinical Development|April 25, 2014
Targeted CNS Delivery Using Human MiniPromoters and Demonstrated Compatibility with Adeno-Associated Viral VectorsCharles N de Leeuw, Frank M Dyka, Sanford L Boye, et al.
Genome Research|December 17, 2008
Genome-wide detection and analysis of hippocampus core promoters using DeepCAGEEivind Valen, Giovanni Pascarella, Alistair Chalk, et al.
Nature Communications|June 3, 2021
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural networkMathys Grapotte, Manu Saraswat, Chloé Bessière, et al.
Nature Neuroscience|May 5, 2015
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington diseaseKristina Bečanović, Anne Nørremølle, Scott J Neal, et al.
Genome Research|December 5, 2013
Genome-wide nucleosome map and cytosine methylation levels of an ancient human genomeJakob Skou Pedersen, Eivind Valen, Amhed M Vargas Velazquez, et al.
Blood|July 5, 2022
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancyMehul Sharma, Maggie P Fu, Henry Y Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2018
Atypical cerebral palsy: genomics analysis enables precision medicineAllison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, et al.
Nucleic Acids Research|October 30, 2016
Update of the FANTOM web resource: high resolution transcriptome of diverse cell types in mammalsMarina Lizio, Jayson Harshbarger, Imad Abugessaisa, et al.
American Journal of Human Genetics|February 18, 2014
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhoodClara D van Karnebeek, William S Sly, Colin J Ross, et al.
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