The role of large pedigrees in an era of high-throughput sequencing

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

(2012) Carlos Cruchaga et al.   PLoS One

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

(2011) Laura Southgate et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integration of SNP genotyping confidence scores in IBD inference

(2011) Barak Markus et al.   BIOINFORMATICS

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

Lessons learned from Genetic Analysis Workshop 17: transitioning from genome-wide association studies to whole-genome statistical genetic analysis

(2011) Alexander F. Wilson et al.   GENETIC EPIDEMIOLOGY

Study Designs for Identification of Rare Disease Variants in Complex Diseases: The Utility of Family-Based Designs

(2011) Iuliana Ionita-Laza et al.   GENETICS

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis

(2011) S. N. Yazbek et al.   GENOME RESEARCH

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Family studies in Crohn's disease: new horizons in understanding disease pathogenesis, risk and prevention: Figure 1

(2011) Charlotte R Hedin et al.   GUT

The Structure of Genetic Linkage Data: From LIPED to 1M SNPs

(2011) Elizabeth Thompson   HUMAN HEREDITY

Estimation and Visualization of Identity-by-Descent within Pedigrees Simplifies Interpretation of Complex Trait Analysis

(2011) Elizabeth E. Marchani et al.   HUMAN HEREDITY

Linkage Analysis in the Next-Generation Sequencing Era

(2011) Joan E. Bailey-Wilson et al.   HUMAN HEREDITY

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

Linkage and association of phospholipid transfer protein activity toLASS4

(2011) Elisabeth A. Rosenthal et al.   JOURNAL OF LIPID RESEARCH

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

(2011) Serena Sanna et al.   PLoS Genetics

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Evolutionary evidence of the effect of rare variants on disease etiology

(2010) IP Gorlov et al.   CLINICAL GENETICS

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

(2010) Ray E Hershberger et al.   GENETICS IN MEDICINE

Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families

(2010) Ellen M. Wijsman et al.   HUMAN GENETICS

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

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Genotype Imputation

(2009) Yun Li et al.   Annual Review of Genomics and Human Genetics

Genetic architecture of quantitative traits in mice, flies, and humans

(2009) J. Flint et al.   GENOME RESEARCH

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels

(2009) F. Calafell et al.   HUMAN MOLECULAR GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

(2008) Wendy H. Raskind et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

(2008) S. E. A. Leigh et al.   ANNALS OF HUMAN GENETICS

A HapMap harvest of insights into the genetics of common disease

(2008) Teri A. Manolio et al.   JOURNAL OF CLINICAL INVESTIGATION

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

A SNP Streak Model for the Identification of Genetic Regions Identical-by-descent

(2008) Gregory Leibon et al.   Statistical Applications in Genetics and Molecular Biology

Multilocus Lod Scores in Large Pedigrees: Combination of Exact and Approximate Calculations

(2007) Liping Tong et al.   HUMAN HEREDITY