On the public citation graph
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
0 signed · 68 inferred · view as graph
Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.
Is this your work? Sign in with ORCID and put your name on the
claims that are yours.
Reference health. See whether every reference in this work resolves to a
known work and none has been retracted — and get a dated CiteStamped
badge you can embed.
What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1016/j.ajhg.2009.09.019openalex-snapshot
Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n
inferredcites →https://doi.org/10.1016/j.ajhg.2017.06.007openalex-snapshot
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
inferredcites →https://doi.org/10.1016/j.ajhg.2017.09.013openalex-snapshot
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
inferredcites →https://doi.org/10.1016/j.ajhg.2018.10.015openalex-snapshot
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
inferredcites →https://doi.org/10.1016/j.ajhg.2018.11.005openalex-snapshot
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
inferredcites →https://doi.org/10.1016/j.ajhg.2019.05.016openalex-snapshot
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
inferredcites →https://doi.org/10.1016/j.cell.2016.03.022openalex-snapshot
Whole-Genome Sequencing of a Healthy Aging Cohort
inferredcites →https://doi.org/10.1016/j.neuron.2011.09.010openalex-snapshot
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
inferredcites →https://doi.org/10.1016/j.neuron.2011.09.011openalex-snapshot
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
inferredcites →https://doi.org/10.1038/386847a0openalex-snapshot
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1038/nature15393openalex-snapshot
A global reference for human genetic variation
inferredcites →https://doi.org/10.1038/nbt.4235openalex-snapshot
A universal SNP and small-indel variant caller using deep neural networks
inferredcites →https://doi.org/10.1038/ncomms9018openalex-snapshot
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
inferredcites →https://doi.org/10.1038/ng.3036openalex-snapshot
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
inferredcites →https://doi.org/10.1038/ng.3247openalex-snapshot
Large-scale whole-genome sequencing of the Icelandic population
inferredcites →https://doi.org/10.1038/nmeth.3407openalex-snapshot
Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
inferredcites →https://doi.org/10.1038/nrg.2017.115openalex-snapshot
Tandem repeats mediating genetic plasticity in health and disease
inferredcites →https://doi.org/10.1038/nrg2748openalex-snapshot
Repeat expansion disease: progress and puzzles in disease pathogenesis
inferredcites →https://doi.org/10.1038/s41431-018-0177-4openalex-snapshot
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1038/s41467-019-12671-yopenalex-snapshot
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
inferredcites →https://doi.org/10.1038/s41467-019-12763-9openalex-snapshot
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
inferredcites →https://doi.org/10.1038/s41588-018-0067-2openalex-snapshot
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
inferredcites →https://doi.org/10.1038/s41588-019-0372-4openalex-snapshot
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
inferredcites →https://doi.org/10.1038/s41588-019-0458-zopenalex-snapshot
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
inferredcites →https://doi.org/10.1038/s41588-019-0521-9openalex-snapshot
The impact of short tandem repeat variation on gene expression
inferredcites →https://doi.org/10.1073/pnas.1613365113openalex-snapshot
Deep sequencing of 10,000 human genomes
inferredcites →https://doi.org/10.1093/bioinformatics/btt314openalex-snapshot
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
inferredcites →https://doi.org/10.1093/bioinformatics/btv710openalex-snapshot
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
inferredcites →https://doi.org/10.1093/bioinformatics/btw163openalex-snapshot
Canvas: versatile and scalable detection of copy number variants
inferredcites →https://doi.org/10.1093/bioinformatics/btz431openalex-snapshot
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
inferredcites →https://doi.org/10.1093/brain/awz267openalex-snapshot
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
inferredcites →https://doi.org/10.1093/nar/27.2.573openalex-snapshot
Tandem repeats finder: a program to analyze DNA sequences
inferredcites →https://doi.org/10.1093/nar/gkz501openalex-snapshot
Profiling the genome-wide landscape of tandem repeat expansions
inferredcites →https://doi.org/10.1101/gr.107524.110openalex-snapshot
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
inferredcites →https://doi.org/10.1101/gr.114876.110openalex-snapshot
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
inferredcites →https://doi.org/10.1101/gr.225672.117openalex-snapshot
Detection of long repeat expansions from PCR-free whole-genome sequence data
inferredcites →https://doi.org/10.1186/gb-2014-15-6-r84openalex-snapshot
LUMPY: a probabilistic framework for structural variant discovery
inferredcites →https://doi.org/10.1186/s13059-016-0917-0openalex-snapshot
The real cost of sequencing: scaling computation to keep pace with data generation
inferredcites →https://doi.org/10.1186/s13059-016-0961-9openalex-snapshot
Erratum to: The real cost of sequencing: scaling computation to keep pace with data generation
inferredcites →https://doi.org/10.1186/s13059-018-1505-2openalex-snapshot
STRetch: detecting and discovering pathogenic short tandem repeat expansions
inferredcites →https://doi.org/10.12688/f1000research.13980.1openalex-snapshot
Recent advances in the detection of repeat expansions with short-read next-generation sequencing
inferredcites →https://doi.org/10.48550/arxiv.1207.3907openalex-snapshot
Haplotype-based variant detection from short-read sequencing
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1002/ana.26366openalex-snapshot
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
inferred← citeshttps://doi.org/10.1002/ana.26436openalex-snapshot
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy
inferred← citeshttps://doi.org/10.1002/ana.26501openalex-snapshot
Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease
inferred← citeshttps://doi.org/10.1002/mds.30083openalex-snapshot
Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China
inferred← citeshttps://doi.org/10.1002/mds.30101openalex-snapshot
Disco‐Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder
inferred← citeshttps://doi.org/10.1007/978-3-031-20792-1_18openalex-snapshot
Genetics and Epigenetics of ASD
inferred← citeshttps://doi.org/10.1007/s11910-024-01400-8openalex-snapshot
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
inferred← citeshttps://doi.org/10.1038/s41380-022-01575-xopenalex-snapshot
Genome-wide tandem repeat expansions contribute to schizophrenia risk
inferred← citeshttps://doi.org/10.1038/s41380-022-01857-4openalex-snapshot
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia
inferred← citeshttps://doi.org/10.1038/s41431-021-00996-6openalex-snapshot
A summary-statistics-based approach to examine the role of serotonin transporter promoter tandem repeat polymorphism in psychiatric phenotypes
inferred← citeshttps://doi.org/10.1038/s41525-024-00396-xopenalex-snapshot
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
inferred← citeshttps://doi.org/10.1038/s41576-024-00696-zopenalex-snapshot
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
inferred← citeshttps://doi.org/10.1038/s41582-021-00455-2openalex-snapshot
Applying genomic and transcriptomic advances to mitochondrial medicine
inferred← citeshttps://doi.org/10.1038/s41582-021-00612-7openalex-snapshot
Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions
inferred← citeshttps://doi.org/10.1038/s41582-023-00909-9openalex-snapshot
Next-generation sequencing and bioinformatics in rare movement disorders
inferred← citeshttps://doi.org/10.1038/s41586-020-2579-zopenalex-snapshot
Genome-wide detection of tandem DNA repeats that are expanded in autism
inferred← citeshttps://doi.org/10.1038/s41586-022-05515-1openalex-snapshot
Recurrent repeat expansions in human cancer genomes
inferred← citeshttps://doi.org/10.1038/s41588-021-00973-1openalex-snapshot
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
inferred← citeshttps://doi.org/10.1038/s41588-024-01686-xopenalex-snapshot
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
inferred← citeshttps://doi.org/10.1038/s41588-024-01917-1openalex-snapshot
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
inferred← citeshttps://doi.org/10.1038/s41598-021-82050-5openalex-snapshot
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
inferred← citeshttps://doi.org/10.1038/s41598-022-17267-zopenalex-snapshot
Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
inferred← citeshttps://doi.org/10.1101/2024.03.06.24303700openalex-snapshot
Medically relevant tandem repeats in nanopore sequencing of control cohorts
inferred← citeshttps://doi.org/10.1111/joim.13815openalex-snapshot
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
Editorial review for independent work. ICSAC — the Institute for Complexity
Science and Advanced Computing — runs a structured editorial panel for researchers
publishing outside journals, and publishes on CiteStamp rails. Submission is free
and goes through ORCID: icsacinstitute.org/submit.