Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

Rare variants and the oligogenic architecture of autism

(2022) Tianyun Wang et al.   TRENDS IN GENETICS

A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder

(2022) Safoura Khamse et al.   Scientific Reports

Patterns of de novo tandem repeat mutations and their role in autism

(2021) Ileena Mitra et al.   NATURE

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

(2021) Jiaxi Yu et al.   BRAIN

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

(2021) Dale J. Annear et al.   Scientific Reports

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

(2021) Christel Depienne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variable number tandem repeats mediate the expression of proximal genes

(2021) Mehrdad Bakhtiari et al.   Nature Communications

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

(2021) Leonie von Elsner et al.   BRAIN

Contribution of rare variant associations to neurodegenerative disease presentation

(2021) Allison A. Dilliott et al.   npj Genomic Medicine

Structural Variants May Be a Source of Missing Heritability in sALS

(2020) Frances Theunissen et al.   Frontiers in Neuroscience

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

(2020) Jianwen Deng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide detection of tandem DNA repeats that are expanded in autism

(2020) Brett Trost et al.   NATURE

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

(2020) Paras Garg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis

(2020) Yanchun Yuan et al.   NEUROLOGY

The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1

(2020) Thijs C. J. Verheul et al.   Frontiers in Cell and Developmental Biology

PANTHER version 16: a revised family classification, tree-based classification tool, enhancer regions and extensive API

(2020) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

(2019) Courtney E. French et al.   INTENSIVE CARE MEDICINE

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

(2019) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

Human core duplicon gene families: game changers or game players?

(2019) Cemalettin Bekpen et al.   Briefings in Functional Genomics

The impact of short tandem repeat variation on gene expression

(2019) Stephanie Feupe Fotsing et al.   NATURE GENETICS

ShinyGO: a graphical gene-set enrichment tool for animals and plants

(2019) Steven Xijin Ge et al.   BIOINFORMATICS

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

(2018) Amy J. LaCroix et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Recurrent 2q13 microduplication encompassing MALL , NPHP1 , RGPD6 , and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

(2017) Chih-Ping Chen et al.   Taiwanese Journal of Obstetrics & Gynecology

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

circlize implements and enhances circular visualization in R

(2014) Zuguang Gu et al.   BIOINFORMATICS

A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families

(2014) Sofie Metsu et al.   HUMAN MUTATION

Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease

(2014) Michael G. Kearse et al.   Neurotherapeutics

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

(2014) Sofie Metsu et al.   PLoS Genetics

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

CGG repeat in the FMR1 gene: size matters

(2011) R Willemsen et al.   CLINICAL GENETICS

Trinucleotide repeats in human genome and exome

(2010) Piotr Kozlowski et al.   NUCLEIC ACIDS RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

(2009) Derek E. Neilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Fragile X–Associated Tremor/Ataxia Syndrome

(2008) Khaled Amiri et al.   ARCHIVES OF NEUROLOGY