Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor

Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome

(2014) Eva C. Schulte et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

(2014) Sally H. Cross et al.   PLoS Genetics

Update on genetics of essential tremor

(2013) F. J. Jiménez-Jiménez et al.   ACTA NEUROLOGICA SCANDINAVICA

Identification of FUS p.R377W in essential tremor

(2013) A. Rajput et al.   EUROPEAN JOURNAL OF NEUROLOGY

Teneurin-4 promotes cellular protrusion formation and neurite outgrowth through focal adhesion kinase signaling

(2013) Nobuharu Suzuki et al.   FASEB JOURNAL

Deciphering Teneurin Domains That Facilitate Cellular Recognition, Cell–Cell Adhesion, and Neurite Outgrowth Using Atomic Force Microscopy-Based Single-Cell Force Spectroscopy

(2013) Jan Beckmann et al.   NANO LETTERS

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor

(2013) Wen Zheng et al.   NEUROBIOLOGY OF AGING

Low macular pigment optical density is associated with lower cognitive performance in a large, population-based sample of older adults

(2013) Joanne Feeney et al.   NEUROBIOLOGY OF AGING

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

(2013) David H. Margolin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Teneurin-4 Is a Novel Regulator of Oligodendrocyte Differentiation and Myelination of Small-Diameter Axons in the CNS

(2012) N. Suzuki et al.   JOURNAL OF NEUROSCIENCE

LINGO1 and risk for essential tremor: Results of a meta-analysis of rs9652490 and rs11856808

(2012) Félix Javier Jiménez-Jiménez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Trans-synaptic Teneurin signalling in neuromuscular synapse organization and target choice

(2012) Timothy J. Mosca et al.   NATURE

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

(2012) S. Thier et al.   NEUROLOGY

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers

(2012) Alexander Zimprich   PARKINSONISM & RELATED DISORDERS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Involvement of REST corepressor 3 in prognosis of human hepatitis B

(2011) Ji-hua Xue et al.   ACTA PHARMACOLOGICA SINICA

A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

(2011) Hyun Hor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FLASH: fast length adjustment of short reads to improve genome assemblies

(2011) T. Magoc et al.   BIOINFORMATICS

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

(2011) Owen A Ross et al.   LANCET NEUROLOGY

The curious case of phenocopies in families with genetic Parkinson's disease

(2011) Christine Klein et al.   MOVEMENT DISORDERS

E2F8 Contributes to Human Hepatocellular Carcinoma via Regulating Cell Proliferation

(2010) Q. Deng et al.   CANCER RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor

(2010) Elan D. Louis et al.   MOVEMENT DISORDERS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

The Glass scale: A simple tool to determine severity in essential tremor

(2010) Alexandre Gironell et al.   PARKINSONISM & RELATED DISORDERS

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

(2009) Hreinn Stefansson et al.   NATURE GENETICS

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

Sequencing of natural strains of Arabidopsis thaliana with short reads

(2008) S. Ossowski et al.   GENOME RESEARCH

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE