相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Christel Depienne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
CentromereArchitect: inference and analysis of the architecture of centromeres
Tatiana Dvorkina et al.
BIOINFORMATICS (2021)
Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
Meredith M. Course et al.
GENOME RESEARCH (2021)
Evolution of a Human-Specific Tandem Repeat Associated with ALS
Meredith M. Course et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
The string decomposition problem and its applications to centromere analysis and assembly
Tatiana Dvorkina et al.
BIOINFORMATICS (2020)
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko et al.
GENOME BIOLOGY (2020)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese et al.
NATURE GENETICS (2019)
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
Galen E. B. Wright et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Egor Dolzhenko et al.
BIOINFORMATICS (2019)
Profiling the genome-wide landscape of tandem repeat expansions
Nima Mousavi et al.
NUCLEIC ACIDS RESEARCH (2019)
Characterizing the Major Structural Variant Alleles of the Human Genome
Peter A. Audano et al.
CELL (2019)
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease
Arne De Roeck et al.
ACTA NEUROPATHOLOGICA (2018)
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Hiroyuki Ishiura et al.
NATURE GENETICS (2018)
Tandem repeats mediating genetic plasticity in health and disease
Anthony J. Hannan
NATURE REVIEWS GENETICS (2018)
Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia
Janet H. T. Song et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
STRetch: detecting and discovering pathogenic short tandem repeat expansions
Harriet Dashnow et al.
GENOME BIOLOGY (2018)
Microsatellites: Simple sequences with complex evolution
H Ellegren
NATURE REVIEWS GENETICS (2004)
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
CL Liquori et al.
SCIENCE (2001)