Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease

(2017) Urko M Marigorta et al.   NATURE GENETICS

Negative selection in humans and fruit flies involves synergistic epistasis

(2017) Mashaal Sohail et al.   SCIENCE

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes

(2015) Victoria Vu et al.   CELL

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

(2015) Vera B. Kaiser et al.   HUMAN MOLECULAR GENETICS

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

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

A method for calculating probabilities of fitness consequences for point mutations across the human genome

(2015) Brad Gulko et al.   NATURE GENETICS

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

(2015) Ron Do et al.   NATURE GENETICS

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

Haploinsufficiency predictions without study bias

(2015) Julia Steinberg et al.   NUCLEIC ACIDS RESEARCH

A genetic component of extinction risk in mammals

(2015) Leonard V. Polishchuk et al.   OIKOS

Distance from sub-Saharan Africa predicts mutational load in diverse human genomes

(2015) Brenna M. Henn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos

(2015) R. C. McCoy et al.   SCIENCE

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans

(2014) Konstantin Y. Popadin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations

(2014) Wenqing Fu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hippocampal Extracellular Matrix Levels and Stochasticity in Synaptic Protein Expression Increase with Age and Are Associated with Age-dependent Cognitive Decline

(2014) Marlene J. Végh et al.   MOLECULAR & CELLULAR PROTEOMICS

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

(2014) Antonio Adamo et al.   NATURE GENETICS

Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

(2013) Konstantin Popadin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New insights into mechanisms behind miscarriage

(2013) Elisabeth Clare Larsen et al.   BMC Medicine

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

(2013) M. R. Sailani et al.   GENOME RESEARCH

From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes

(2013) Benjamin Georgi et al.   PLoS Genetics

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

(2013) Maria Gutierrez-Arcelus et al.   eLife

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

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

(2011) Sébastien Jacquemont et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

From expression QTLs to personalized transcriptomics

(2011) Stephen B. Montgomery et al.   NATURE REVIEWS GENETICS

Impact of gene expression noise on organismal fitness and the efficacy of natural selection

(2011) Z. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

(2010) Paulina Carmona-Mora et al.   CURRENT GENOMICS

Age-dependent chromosomal distribution of male-biased genes in Drosophila

(2010) Y. E. Zhang et al.   GENOME RESEARCH

Compensatory evolution in mitochondrial tRNAs navigates valleys of low fitness

(2010) Margarita V. Meer et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Human Embryonic Stem Cells as Models for Aneuploid Chromosomal Syndromes

(2010) Juan-Carlos Biancotti et al.   STEM CELLS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

The genetics of inbreeding depression

(2009) Deborah Charlesworth et al.   NATURE REVIEWS GENETICS

The universal distribution of evolutionary rates of genes and distinct characteristics of eukaryotic genes of different apparent ages

(2009) Y. I. Wolf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

(2009) A. S. Dimas et al.   SCIENCE

ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs

(2008) Denis A. Smirnov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE