Family studies to find rare high risk variants in migraine

Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate

(2016) Alana Aylward et al.   GENETIC EPIDEMIOLOGY

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness

(2016) O R Homann et al.   MOLECULAR PSYCHIATRY

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

(2016) Padhraig Gormley et al.   NATURE GENETICS

Identification of TMEM230 mutations in familial Parkinson's disease

(2016) Han-Xiang Deng et al.   NATURE GENETICS

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

(2016) Zhifan Zhou et al.   Scientific Reports

Exome Sequencing of Familial Bipolar Disorder

(2016) Fernando S. Goes et al.   JAMA Psychiatry

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

(2015) Sabrina Prudente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data

(2015) M. Saad et al.   GENES BRAIN AND BEHAVIOR

Confocal Imaging–Guided Laser Ablation of Basal Cell Carcinomas: An Ex Vivo Study

(2015) Heidy Sierra et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing

(2015) Yue Jiang et al.   JOURNAL OF NEUROGENETICS

Small island, big genetic discoveries

(2015) Guillaume Lettre et al.   NATURE GENETICS

Rare A2ML1 variants confer susceptibility to otitis media

(2015) Regie Lyn P Santos-Cortez et al.   NATURE GENETICS

Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study

(2015) Jun Egawa et al.   PSYCHIATRY RESEARCH

Linkage and whole genome sequencing identify a locus on 6q25–26 for formal thought disorder and implicate MEF2A regulation

(2015) Johan Hilge Thygesen et al.   SCHIZOPHRENIA RESEARCH

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

(2015) Mette Nyegaard et al.   PLoS Genetics

Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

(2015) Janice L. Farlow et al.   PLoS One

Whole-exome sequencing in familial atrial fibrillation

(2014) Peter Weeke et al.   EUROPEAN HEART JOURNAL

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

(2014) Rinki Ratnapriya et al.   HUMAN MOLECULAR GENETICS

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

(2014) Kevin A. Strauss et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

(2014) Yi Yu et al.   HUMAN MOLECULAR GENETICS

Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population

(2014) Ting Liu et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Exome Sequencing Identifies a Novel FOXP3 Mutation in a 2-Generation Family With Inflammatory Bowel Disease

(2014) David T. Okou et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

(2014) Monica K Wetzel-Smith et al.   NATURE MEDICINE

Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene

(2014) Yukinori Okada et al.   PLoS One

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genomic View of Bipolar Disorder Revealed by Whole Genome Sequencing in a Genetic Isolate

(2014) Benjamin Georgi et al.   PLoS Genetics

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

(2014) Holly N Cukier et al.   Molecular Autism

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

(2014) J Y An et al.   Translational Psychiatry

Identification of rare copy number variants in high burden schizophrenia families

(2013) Maarten J. Van Den Bossche et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The International Classification of Headache Disorders, 3rd edition (beta version)

(2013)   CEPHALALGIA

Analysis of 3 common polymorphisms in the KCNK18 gene in an Australian Migraine Case-control cohort

(2013) B.H. Maher et al.   GENE

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

(2013) Cristiana Cruceanu et al.   GENOME

The molecular pathogenesis of migraine: new developments and opportunities

(2013) M. Zameel Cader   HUMAN MOLECULAR GENETICS

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

The omics in migraine

(2013) Luana Lionetto et al.   JOURNAL OF HEADACHE AND PAIN

Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes

(2013) Daisuke Tanaka et al.   MOLECULAR GENETICS AND METABOLISM

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

(2013) Carlos Cruchaga et al.   NATURE

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

(2013) Andrew E. Timms et al.   JAMA Psychiatry

Whole-genome sequencing in an autism multiplex family

(2013) Lingling Shi et al.   Molecular Autism

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Functional analysis of missense variants in the TRESK (KCNK18) K+ channel

(2012) Isabelle Andres-Enguix et al.   Scientific Reports

OS049. Exome sequencing identifies likely functional variantsinfluencing preeclampsia and CVD risk

(2012) M. Johnson et al.   Pregnancy Hypertension-An International Journal of Womens Cardiovascular Health

Cost of disorders of the brain in Europe 2010

(2011) Anders Gustavsson et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Family-Based Association Study of Chromosome 6p12.2-p21.1 Migraine Locus

(2011) Agustín Oterino et al.   HEADACHE

Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study

(2010) Donald W. Bowden et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

(2010) Ronald G Lafrenière et al.   NATURE MEDICINE

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

A visual migraine aura locus maps to 9q21-q22

(2010) P. Tikka-Kleemola et al.   NEUROLOGY

Genomic Medicine — An Updated Primer

(2010) W. Gregory Feero et al.   NEW ENGLAND JOURNAL OF MEDICINE

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Molecular genetics of migraine

(2009) Boukje de Vries et al.   HUMAN GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

(2009) B. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Consistently Replicating Locus Linked to Migraine on 10q22-q23

(2008) Verneri Anttila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A high-density association screen of 155 ion transport genes for involvement with common migraine

(2008) Dale R. Nyholt et al.   HUMAN MOLECULAR GENETICS

Pharmacogenomics and migraine: possible implications

(2008) Peer Tfelt-Hansen et al.   JOURNAL OF HEADACHE AND PAIN

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS