Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction

Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease

(2021) P. Roman-Naranjo et al.   HEARING RESEARCH

Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis

(2021) G.M. Richter et al.   JOURNAL OF DENTAL RESEARCH

Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease

(2021) Elizabeth A. Terhune et al.   Genes

A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo

(2021) Astros Th. Skuladottir et al.   Communications Biology

Vertigo and Dizziness in Children: An Update

(2021) Virginia Fancello et al.   Children-Basel

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes

(2020) Martin Krenn et al.   JOURNAL OF MEDICAL GENETICS

Familial analysis reveals rare risk variants for migraine in regulatory regions

(2020) Tanya Ramdal Techlo et al.   NEUROGENETICS

Burden of Rare Variants in the OTOG Gene in Familial Meniere’s Disease

(2020) Pablo Roman-Naranjo et al.   EAR AND HEARING

Lateral semi-circular canal asymmetry in females with idiopathic scoliosis

(2020) Patrick M. Carry et al.   PLoS One

Systematic Review of Prevalence Studies and Familial Aggregation in Vestibular Migraine

(2020) Ana Paz-Tamayo et al.   Frontiers in Genetics

Novel hypotheses emerging from GWAS in migraine?

(2019) Arn M. J. M. van den Maagdenberg et al.   JOURNAL OF HEADACHE AND PAIN

Whole‐exome sequencing suggests multiallelic inheritance for childhood‐onset Ménière's disease

(2019) Sini Skarp et al.   ANNALS OF HUMAN GENETICS

An evolutionarily conserved gene family encodes proton-selective ion channels

(2018) Yu-Hsiang Tu et al.   SCIENCE

Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology

(2018) Erin E. Baschal et al.   G3-Genes Genomes Genetics

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

(2018) Jorge Oliveira et al.   HUMAN MUTATION

Hypercoagulability and Migraine

(2017) Gretchen E. Tietjen et al.   HEADACHE

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

(2016) Carmen Martín-Sierra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetics of vestibular disorders: pathophysiological insights

(2016) Lidia Frejo et al.   JOURNAL OF NEUROLOGY

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

(2016) Padhraig Gormley et al.   NATURE GENETICS

Gene Expression by Mouse Inner Ear Hair Cells during Development

(2015) D. I. Scheffer et al.   JOURNAL OF NEUROSCIENCE

Kinesin family member 6 (kif6) is necessary for spine development in zebrafish

(2014) Jillian G. Buchan et al.   DEVELOPMENTAL DYNAMICS

Idiopathic scoliosis and the vestibular system

(2014) Ammar H. Hawasli et al.   EUROPEAN SPINE JOURNAL

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

NetworkAnalyst - integrative approaches for protein–protein interaction network analysis and visual exploration

(2014) Jianguo Xia et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

(2014) Erin E. Baschal et al.   G3-Genes Genomes Genetics

Thrombophilic Disorders in Migraine

(2014) Cinzia Cavestro et al.   Frontiers in Neurology

Familial clustering and genetic heterogeneity in Meniere's disease

(2013) T. Requena et al.   CLINICAL GENETICS

Genome-wide meta-analysis identifies new susceptibility loci for migraine

(2013) Verneri Anttila et al.   NATURE GENETICS

Mutation analysis ofNetrin 1andHMX3genes in patients with superior semicircular canal dehiscence syndrome

(2012) Nikola Roknic et al.   ACTA OTO-LARYNGOLOGICA

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

InnateDB: systems biology of innate immunity and beyond—recent updates and continuing curation

(2012) Karin Breuer et al.   NUCLEIC ACIDS RESEARCH

Lineage-specific evolution of the vertebrate Otopetringene family revealed by comparative genomic analyses

(2011) Belen Hurle et al.   BMC EVOLUTIONARY BIOLOGY

Vascular Gene Polymorphisms (EDNRA -231 G>A and APOE HhaI) and Risk for Migraine

(2011) Gunjan Joshi et al.   DNA AND CELL BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

(2010) Fatemeh Geranmayeh et al.   NEUROMUSCULAR DISORDERS

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

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

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

(2009) Nathaniel D. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Evidence for cognitive vestibular integration impairment in idiopathic scoliosis patients

(2009) Martin Simoneau et al.   BMC NEUROSCIENCE

Polymorphism in apolipoprotein E among migraineurs and tension-type headache subjects

(2009) Ravi Gupta et al.   JOURNAL OF HEADACHE AND PAIN