Hunting human disease genes: lessons from the past, challenges for the future

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

(2012) Dana Fuchs-Telem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

(2012) Margaret J. McMillin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

(2012) Jennifer E. Below et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Autosomal Dominant Familial Dyskinesia and Facial Myokymia

(2012) Ying-Zhang Chen   ARCHIVES OF NEUROLOGY

Genetics of Human Cardiovascular Disease

(2012) Sekar Kathiresan et al.   CELL

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner

(2012) Paul D. W. Eckford et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

(2012) Abdel Ayadi et al.   MAMMALIAN GENOME

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union

(2012) Seppo Ylä-Herttuala   MOLECULAR THERAPY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

(2012) Catherine Boileau et al.   NATURE GENETICS

Fruits of exome sequencing for autism

(2012) Mary Muers   NATURE REVIEWS GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

(2012) Ian Tietjen et al.   PLoS One

Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

(2012) Kristin K. McDonald et al.   PLoS One

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

(2012) Melanie Lacaria et al.   PLoS Genetics

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

(2012) Marc-Phillip Hitz et al.   PLoS Genetics

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Mapping Rare and Common Causal Alleles for Complex Human Diseases

(2011) Soumya Raychaudhuri   CELL

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans

(2011) LR Brunham et al.   CLINICAL GENETICS

Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology

(2011) Vered Molho-Pessach et al.   HEPATOLOGY

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Genetic Variant of the Scavenger Receptor BI in Humans

(2011) Menno Vergeer et al.   NEW ENGLAND JOURNAL OF MEDICINE

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Computational and statistical approaches to analyzing variants identified by exome sequencing

(2011) Nathan O Stitziel et al.   GENOME BIOLOGY

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

(2010) Nara L. M. Sobreira et al.   PLoS Genetics

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human 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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

PANTHER version 7: improved phylogenetic trees, orthologs and collaboration with the Gene Ontology Consortium

(2009) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

(2008) A. D. Johnson et al.   BIOINFORMATICS

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

(2008) Saleemah Fahmi et al.   HUMAN MOLECULAR GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS

The Chemical Genomic Portrait of Yeast: Uncovering a Phenotype for All Genes

(2008) M. E. Hillenmeyer et al.   SCIENCE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE