Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

(2018) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extending the phenotype associated with the CSNK2A1- related Okur-Chung syndrome-A clinical study of 11 individuals

(2018) Ceris I. Owen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

(2018) Naomi R. Wray et al.   NATURE GENETICS

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

(2018) Antonio F. Pardiñas et al.   NATURE GENETICS

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

Analysis of shared heritability in common disorders of the brain

(2018) et al.   SCIENCE

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature

(2017) M Balasubramanian et al.   JOURNAL OF MEDICAL GENETICS

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

(2017) Suzanne Sniekers et al.   NATURE GENETICS

Heritability and GWAS Analyses of Acne in Australian Adolescent Twins

(2017) Angela Mina-Vargas et al.   Twin Research and Human Genetics

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

(2016) Jie Zheng et al.   BIOINFORMATICS

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

(2016) Dena G. Hernandez et al.   JOURNAL OF NEUROCHEMISTRY

Genome-wide associations for birth weight and correlations with adult disease

(2016) Momoko Horikoshi et al.   NATURE

Genome-wide association study identifies 74 loci associated with educational attainment

(2016) Aysu Okbay et al.   NATURE

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

(2016) Andrea Ganna et al.   NATURE NEUROSCIENCE

Novel genetic loci underlying human intracranial volume identified through genome-wide association

(2016) Hieab H H Adams et al.   NATURE NEUROSCIENCE

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes

(2016) Jason Flannick et al.   Nature Reviews Endocrinology

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

A Fast Method that Uses Polygenic Scores to Estimate the Variance Explained by Genome-wide Marker Panels and the Proportion of Variants Affecting a Trait

(2015) Luigi Palla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Common alleles contribute to schizophrenia in CNV carriers

(2015) K E Tansey et al.   MOLECULAR PSYCHIATRY

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

Discontinuity in the genetic and environmental causes of the intellectual disability spectrum

(2015) Abraham Reichenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT)

(2014) R. Durbin   BIOINFORMATICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

A high-resolution map of human evolutionary constraint using 29 mammals

(2011) Kerstin Lindblad-Toh et al.   NATURE

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

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

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS