An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

Advancing the diagnosis of repeat expansion disorders

(2022) Paul J Lockhart   LANCET NEUROLOGY

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

(2022) Kristina Ibañez et al.   LANCET NEUROLOGY

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

(2022) Lara M. Lange et al.   MOVEMENT DISORDERS

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

(2022) Marta Byrska-Bishop et al.   CELL

RFC1-Related Disease

(2022) Kayli Davies et al.   Neurology-Genetics

Relative versus absolute RNA quantification: a comparative analysis based on the example of endothelial expression of vasoactive receptors

(2021) Kevin Kuhlmann et al.   BIOLOGICAL PROCEDURES ONLINE

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

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

(2020) Martin Paucar et al.   JOURNAL OF INTERNAL MEDICINE

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study

(2020) Michael Strupp et al.   CEREBELLUM

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

(2020) Maria Gisatulin et al.   NEUROLOGY

Readfish enables targeted nanopore sequencing of gigabase-sized genomes

(2020) Alexander Payne et al.   NATURE BIOTECHNOLOGY

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

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Clinical application of next-generation sequencing to the practice of neurology

(2019) Jessica Rexach et al.   LANCET NEUROLOGY

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14

(2018) Shiroh Miura et al.   European Journal of Medical Genetics

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nextflow enables reproducible computational workflows

(2017) Paolo Di Tommaso et al.   NATURE BIOTECHNOLOGY

Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders

(2017) Jessica Di Re et al.   Frontiers in Cellular Neuroscience

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

(2016) Connie Marras et al.   MOVEMENT DISORDERS

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance

(2015) M. K. Bosch et al.   JOURNAL OF NEUROSCIENCE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

(2014) Sophie Tezenas du Montcel et al.   BRAIN

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons

(2014) Haidun Yan et al.   eLife

The Role of Interruptions in polyQ in the Pathology of SCA1

(2013) Rajesh P. Menon et al.   PLoS Genetics

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

SCA27 caused by a chromosome translocation: further delineation of the phenotype

(2009) D. Misceo et al.   NEUROGENETICS

The video head impulse test: Diagnostic accuracy in peripheral vestibulopathy

(2009) H. G. MacDougall et al.   NEUROLOGY