Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation

(2016) Marisela E. Dy et al.   JOURNAL OF CHILD NEUROLOGY

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

(2016) Morgane Miltgen et al.   MOVEMENT DISORDERS

Genetics of movement disorders in the next-generation sequencing era

(2016) Simone Olgiati et al.   MOVEMENT DISORDERS

Launching the movement disorders society genetic mutation database (MDSGene)

(2016) Christina M. Lill et al.   MOVEMENT DISORDERS

Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency

(2016) Simone Olgiati et al.   MOVEMENT DISORDERS

Phenotypic insights intoADCY5-associated disease

(2016) Florence C.F. Chang et al.   MOVEMENT DISORDERS

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

(2016) Aloysius Domingo et al.   MOVEMENT DISORDERS

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

(2015) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

(2015) Yu Sun et al.   HUMAN MUTATION

Dopa-responsive dystonia—clinical and genetic heterogeneity

(2015) Subhashie Wijemanne et al.   Nature Reviews Neurology

Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia

(2015) Jihad A. Muglan et al.   NEUROLOGY

ADCY5-related dyskinesia

(2015) Dong-Hui Chen et al.   NEUROLOGY

Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia

(2014) Ying-Zhang Chen et al.   ANNALS OF NEUROLOGY

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

(2014) Niccolò E. Mencacci et al.   BRAIN

Dystonia

(2014) Bettina Balint et al.   CURRENT OPINION IN NEUROLOGY

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

(2014) Martje E van Egmond et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Application of whole exome sequencing in undiagnosed inherited polyneuropathies

(2014) C. J. Klein et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The phenotypic spectrum of DYT24 due to ANO3 mutations

(2014) Maria Stamelou et al.   MOVEMENT DISORDERS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

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

Haplotype Estimation Using Sequencing Reads

(2013) Olivier Delaneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

(2013) C. Bettencourt et al.   CLINICAL GENETICS

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

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

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

(2013) Wassilios G. Meissner et al.   MOVEMENT DISORDERS

Phenomenology and classification of dystonia: A consensus update

(2013) Alberto Albanese et al.   MOVEMENT DISORDERS

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls

(2013) Michael Zech et al.   MOVEMENT DISORDERS

The importance of rare DNA variation in neurologic disease: Cautionary tale

(2013) J. L. Haines   NEUROLOGY

Genetics in dystonia

(2013) Christine Klein   PARKINSONISM & RELATED DISORDERS

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases

(2012) Mark S. LeDoux et al.   PARKINSONISM & RELATED DISORDERS

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

(2011) Jose Felix Marti-Masso et al.   HUMAN GENETICS

Dystonia-plus syndromes

(2010) F. Asmus et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

(2010) Thomas Opladen et al.   MOVEMENT DISORDERS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation ofBRCA1mutation scanning using the 96-well LightScanner™

(2009) Nienke van der Stoep et al.   HUMAN MUTATION

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

(2009) I Trender-Gerhard et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS