The individual and global impact of copy-number variants on complex human traits

Genetics of 35 blood and urine biomarkers in the UK Biobank

(2021) Nasa Sinnott-Armstrong et al.   NATURE GENETICS

Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants

(2021) Elmo Christian Saarentaus et al.   MOLECULAR PSYCHIATRY

Association of structural variation with cardiometabolic traits in Finns

(2021) Lei Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes

(2021) Raha Pazoki et al.   Nature Communications

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

(2021) Julia K. Goodrich et al.   Nature Communications

A cross-population atlas of genetic associations for 220 human phenotypes

(2021) Saori Sakaue et al.   NATURE GENETICS

A genome-wide association study on liver enzymes in Korean population

(2020) Ji Yeon Seo et al.   PLoS One

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

(2020) Yun Rose Li et al.   Nature Communications

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Mapping and characterization of structural variation in 17,795 human genomes

(2020) Haley J. Abel et al.   NATURE

Drosophila MARF1 ensures proper oocyte maturation by regulating nanos expression

(2020) Shinichi Kawaguchi et al.   PLoS One

Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia

(2020) Matthew Halvorsen et al.   Nature Communications

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

(2020) Christa Lese Martin et al.   JAMA Psychiatry

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Intrauterine growth restriction: Clinical consequences on health and disease at adulthood

(2020) J.B. Armengaud et al.   REPRODUCTIVE TOXICOLOGY

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank

(2019) Anthony Warland et al.   MOLECULAR PSYCHIATRY

Association of Rare Copy Number Variants With Risk of Depression

(2019) Kimberley Marie Kendall et al.   JAMA Psychiatry

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

(2019) Eleonora Porcu et al.   Nature Communications

Phenome-wide Burden of Copy-Number Variation in the UK Biobank

(2019) Matthew Aguirre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long telomeres and cancer risk: the price of cellular immortality

(2019) Emily J. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

(2019) Deepti Gurdasani et al.   CELL

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

(2019) M. T. Oetjens et al.   Nature Communications

Genome-Wide Runs of Homozygosity, Effective Population Size, and Detection of Positive Selection Signatures in Six Chinese Goat Breeds

(2019) Islam et al.   Genes

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

(2018) Kate Wolfe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Chromosomal instability in women with primary ovarian insufficiency

(2018) Sunita Katari et al.   HUMAN REPRODUCTION

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency

(2018) Xiang Yang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

(2018) Karen Crawford et al.   JOURNAL OF MEDICAL GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

(2017) Felix R Day et al.   NATURE GENETICS

Bayesian association scan reveals loci associated with human lifespan and linked biomarkers

(2017) Aaron F. McDaid et al.   Nature Communications

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

(2017) Aurélien Macé et al.   Nature Communications

New quality measure for SNP array based CNV detection

(2016) A. Macé et al.   BIOINFORMATICS

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Insulin-like growth factor-1 deficiency and metabolic syndrome

(2016) G. A. Aguirre et al.   Journal of Translational Medicine

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

(2016) M N Loviglio et al.   MOLECULAR PSYCHIATRY

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

(2015) Kacie N. Riley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical phenotype of the recurrent 1q21.1 copy-number variant

(2015) Raphael Bernier et al.   GENETICS IN MEDICINE

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

(2015) Katrin Männik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

(2014) Liis Leitsalu et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

(2014) Barbara W van Paassen et al.   Orphanet Journal of Rare Diseases

Metabolic Signatures of Adiposity in Young Adults: Mendelian Randomization Analysis and Effects of Weight Change

(2014) Peter Würtz et al.   PLOS MEDICINE

A Genome-Wide Association Study for Serum Bilirubin Levels and Gene-Environment Interaction in a Chinese Population

(2013) Xiayun Dai et al.   GENETIC EPIDEMIOLOGY

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

Diagnosis and treatment of growth hormone deficiency in adults

(2013) Atil Y. Kargi et al.   Nature Reviews Endocrinology

The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

(2013) Tove Fall et al.   PLOS MEDICINE

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

(2013) Armand Valsesia et al.   Frontiers in Genetics

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

(2012) Evita van de Steeg et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

(2012) Anna Köttgen et al.   NATURE GENETICS

Meiosis arrest female 1 (MARF1) has nuage-like function in mammalian oocytes

(2012) Y.-Q. Su et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MARF1 Regulates Essential Oogenic Processes in Mice

(2012) Y.-Q. Su et al.   SCIENCE

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions

(2011) Andrew Dauber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

(2011) Catarina D. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels

(2011) Suzette J. Bielinski et al.   MAYO CLINIC PROCEEDINGS

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

(2011) John C Chambers et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Copy Number Variation across European Populations

(2011) Wanting Chen et al.   PLoS One

IGF-1 suppresses Bim expression in multiple myeloma via epigenetic and posttranslational mechanisms

(2010) E. De Bruyne et al.   BLOOD

GWAMA: software for genome-wide association meta-analysis

(2010) Reedik Mägi et al.   BMC BIOINFORMATICS

Multiple Genetic Loci Influence Serum Urate Levels and Their Relationship With Gout and Cardiovascular Disease Risk Factors

(2010) Qiong Yang et al.   Circulation-Cardiovascular Genetics

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Genome-wide association of serum bilirubin levels in Korean population

(2010) Tae-Wook Kang et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

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

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

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Genome-wide association meta-analysis for total serum bilirubin levels

(2009) A. D. Johnson et al.   HUMAN MOLECULAR GENETICS

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

(2009) Serena Sanna et al.   HUMAN MOLECULAR GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Genes determining blood cell traits

(2009) Nancy C Andrews   NATURE GENETICS

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh et al.   NATURE GENETICS

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

(2009) Sekar Kathiresan et al.   NATURE GENETICS

Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations

(2009) Jian Li et al.   PLoS One

Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations

(2009) Melanie Kolz et al.   PLoS Genetics

Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes

(2008) Xin Yuan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common Variation in the FTO Gene Alters Diabetes-Related Metabolic Traits to the Extent Expected Given Its Effect on BMI

(2008) R. M. Freathy et al.   DIABETES

A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms

(2008) Xiaoyi Gao et al.   GENETIC EPIDEMIOLOGY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE