Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans

Copy number variations of satellite III (1q12) and ribosomal repeats in health and schizophrenia

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Age-Dependent Ribosomal DNA Variations in Mice

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Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk

(2019) Jian Zhou et al.   NATURE GENETICS

Substitutions Are Boring: Some Arguments about Parallel Mutations and High Mutation Rates

(2019) Maximilian Oliver Press et al.   TRENDS IN GENETICS

Human rDNA Copy Number Is Unstable in Metastatic Breast Cancers

(2019) Virginia Valori et al.   Epigenetics

Individual Copy Number of Ribosomal Genes as a Factor of Mental Retardation and Autism Risk and Severity

(2019) Lev Porokhovnik   Cells

Challenges and Approaches to Genotyping Repetitive DNA

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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

Genetic and epigenetic variation in 5S ribosomal RNA genes reveals genome dynamics in Arabidopsis thaliana

(2018) Lauriane Simon et al.   NUCLEIC ACIDS RESEARCH

Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers

(2018) Maheshi Udugama et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Paternally inherited cis-regulatory structural variants are associated with autism

(2018) William M. Brandler et al.   SCIENCE

Variant ribosomal RNA alleles are conserved and exhibit tissue-specific expression

(2018) Matthew M. Parks et al.   Science Advances

Abundance of ribosomal RNA gene copies in the genomes of schizophrenia patients

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Copy Number of Human Ribosomal Genes With Aging: Unchanged Mean, but Narrowed Range and Decreased Variance in Elderly Group

(2018) Elena M. Malinovskaya et al.   Frontiers in Genetics

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

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Ribosomal DNA copy number loss and sequence variation in cancer

(2017) Baoshan Xu et al.   PLoS Genetics

Ribosomal DNA copy number amplification and loss in human cancers is linked to tumor genetic context, nucleolus activity, and proliferation

(2017) Meng Wang et al.   PLoS Genetics

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

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Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes

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Neurodegeneration-associated instability of ribosomal DNA

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The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Ribosomal DNA copy number is coupled with gene expression variation and mitochondrial abundance in humans

(2014) John G. Gibbons et al.   Nature Communications

The million mutation project: A new approach to genetics in Caenorhabditis elegans

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Fast gapped-read alignment with Bowtie 2

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Epigenetic Silencing of Nucleolar rRNA Genes in Alzheimer's Disease

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Human rRNA Gene Clusters Are Recombinational Hotspots in Cancer

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Loss of Bloom syndrome protein destabilizes human gene cluster architecture

(2009) Michael W. Killen et al.   HUMAN MOLECULAR GENETICS

Heterochromatic siRNAs and DDM1 Independently Silence Aberrant 5S rDNA Transcripts in Arabidopsis

(2009) Todd Blevins et al.   PLoS One

A Pol V–Mediated Silencing, Independent of RNA–Directed DNA Methylation, Applies to 5S rDNA

(2009) Julien Douet et al.   PLoS Genetics

Interplay of RNA Pol IV and ROS1 During Post-Embryonic 5S rDNA Chromatin Remodeling

(2008) Julien Douet et al.   PLANT AND CELL PHYSIOLOGY