Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

(2020) Ricardo Mouro Pinto et al.   HUMAN MOLECULAR GENETICS

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

(2019) Andrea Cortese et al.   NATURE GENETICS

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

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Targeting Huntingtin Expression in Patients with Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

(2019) Sarah L. Gardiner et al.   JAMA Neurology

Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues

(2019) Ferrari Raffaele et al.   NEUROBIOLOGY OF AGING

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

(2019) Marc Ciosi et al.   EBioMedicine

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases

(2018) Magdalena Dabrowska et al.   Frontiers in Neuroscience

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

Haplotype-based stratification of Huntington's disease

(2017) Michael J Chao et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

(2017) Günter U. Höglinger et al.   MOVEMENT DISORDERS

Fast and accurate long-range phasing in a UK Biobank cohort

(2016) Po-Ru Loh et al.   NATURE GENETICS

Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

(2016) Karissa C. Arthur et al.   Nature Communications

The 100 000 Genomes Project

(2016) Mark Peplow   BMJ-British Medical Journal

The 100 000 Genomes Project

(2016) Mark Peplow   BMJ-British Medical Journal

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

(2014) Lora Bean et al.   GENETICS IN MEDICINE

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

(2013) Mohamed Jama et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

(2013) A. Chiò et al.   NEUROEPIDEMIOLOGY

Amyotrophic lateral sclerosis and Huntington’s disease: Neurodegenerative link or coincidence?

(2013) Suresh Kumar Chhetri et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinicopathologic study

(2012) Mari Tada et al.   ACTA NEUROPATHOLOGICA

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

The incidence and prevalence of Huntington's disease: A systematic review and meta-analysis

(2012) Tamara Pringsheim et al.   MOVEMENT DISORDERS

Huntington Chorea Presenting With Motor Neuron Disease

(2011) Hamid Sadeghian et al.   ARCHIVES OF NEUROLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Huntington's disease presenting as amyotrophic lateral sclerosis

(2010) Julie Phukan et al.   Amyotrophic Lateral Sclerosis

Behavioral variant of frontotemporal dementia mimicking Huntington's disease

(2010) T. Rune Nielsen et al.   INTERNATIONAL PSYCHOGERIATRICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

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

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

CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches

(2009) Douglas R. Langbehn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders

(2009) Patricia Lillo et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Genetically confirmed Huntington's disease masquerading as motor neuron disease

(2008) Kazuaki Kanai et al.   MOVEMENT DISORDERS