A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

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

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

(2019) Hane Lee et al.   GENETICS IN MEDICINE

Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene

(2018) Brent L. Fogel   ANNALS OF NEUROLOGY

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

(2018) Ahmed Alfares et al.   GENETICS IN MEDICINE

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

(2018) Lisa J Ewans et al.   GENETICS IN MEDICINE

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

(2018) Miao Sun et al.   GENETICS IN MEDICINE

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

(2018) Marie Coutelier et al.   JAMA Neurology

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

(2018) Solveig Montaut et al.   JAMA Neurology

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

(2018) Supreet K. Sahai et al.   Annals of Clinical and Translational Neurology

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot et al.   GENETICS IN MEDICINE

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

(2016) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2016) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

(2016) Cecilia Marelli et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

(2016) Tomasz Gambin et al.   NUCLEIC ACIDS RESEARCH

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

(2015) Brent L. Fogel et al.   Annals of the New York Academy of Sciences

PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes

(2015) Jeffrey Staples et al.   BIOINFORMATICS

Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data

(2015) Konstantin Okonechnikov et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

(2015) M. J. Keogh et al.   JOURNAL OF NEUROLOGY

Association of the COQ2 V393A variant with risk of multiple system atrophy in East Asians: a case–control study and meta-analysis of the literature

(2015) QuanZhen Zhao et al.   NEUROLOGICAL SCIENCES

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

(2014) Jeffrey Staples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

(2014) Samuel P. Strom et al.   GENETICS IN MEDICINE

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

Utilization of Genetic Testing Prior to Subspecialist Referral for Cerebellar Ataxia

(2013) Brent L. Fogel et al.   Genetic Testing and Molecular Biomarkers

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

(2013) Sarah L. Sawyer et al.   HUMAN MUTATION

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Clinical Neurogenetics

(2013) Vikram G. Shakkottai et al.   NEUROLOGIC CLINICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Qualimap: evaluating next-generation sequencing alignment data

(2012) Fernando García-Alcalde et al.   BIOINFORMATICS

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias

(2011) Ruba Benini et al.   JOURNAL OF PEDIATRICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

(2011) K. Ishikawa et al.   NEUROLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Cerebellar ataxias

(2009) Mario Manto et al.   CURRENT OPINION IN NEUROLOGY

Sporadic ataxia with adult onset: classification and diagnostic criteria

(2009) Thomas Klockgether   LANCET NEUROLOGY

Second consensus statement on the diagnosis of multiple system atrophy

(2008) S. Gilman et al.   NEUROLOGY