Whole genome sequencing and rare variant analysis in essential tremor families

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

(2018) Brett Trost et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor

(2017) Xue-Rong Leng et al.   JOURNAL OF HUMAN GENETICS

Expression patterns of Slit and Robo family members in adult mouse spinal cord and peripheral nervous system

(2017) Lauren Carr et al.   PLoS One

Cacna1gis a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channelScn2a

(2016) Jeffrey D. Calhoun et al.   EPILEPSIA

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   HUMAN GENETICS

Linkage of familial essential tremor to chromosome 5q35

(2016) James E. Hicks et al.   MOVEMENT DISORDERS

Purkinje cell loss in essential tremor: Random sampling quantification and nearest neighbor analysis

(2016) Matthew Choe et al.   MOVEMENT DISORDERS

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

(2015) Marie Coutelier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor

(2015) Elena Sánchez et al.   ASN Neuro

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Cav3.1 T-type calcium channel modulates the epileptogenicity of hippocampal seizures in the kainic acid-induced temporal lobe epilepsy model

(2015) Chong-Hyun Kim   BRAIN RESEARCH

Linking Essential Tremor to the Cerebellum: Physiological Evidence

(2015) Pavel Filip et al.   CEREBELLUM

Identification of candidate genes for familial early-onset essential tremor

(2015) Xinmin Liu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Hyun Hor et al.   HUMAN MOLECULAR GENETICS

Inhibition of Cav3.2 T-type Calcium Channels by Its Intracellular I-II Loop

(2015) Arnaud Monteil et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

(2015) Hui Yang et al.   NATURE METHODS

New insights into the performance of human whole-exome capture platforms

(2015) J. Meienberg et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Heterogeneity of tremor mechanisms assessed by tremor-related cortical potential in mice

(2015) Young-Gyun Park et al.   Molecular Brain

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

(2015) Hiroyuki Morino et al.   Molecular Brain

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

(2014) Hao Hu et al.   NATURE BIOTECHNOLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Measurement of Lifespan in Drosophila melanogaster

(2013) Nancy J. Linford et al.   Jove-Journal of Visualized Experiments

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

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

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Tremor in inflammatory neuropathies

(2012) Tabish Aziz Saifee et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

(2011) C Crimella et al.   CLINICAL GENETICS

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

(2010) Heather M. McLaughlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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 method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

(2010) Dajiang J. Liu et al.   PLoS Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics

(2009) Ling Lin et al.   TRENDS IN NEUROSCIENCES