Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.
PLoS Genet. 2016;12(6):e1006121 - PMID: 27305007
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet. 2016;:ePub - PMID: 27322543
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF.
Gastroenterology. 2016;:ePub - PMID: 27377463
The genetic architecture of type 2 diabetes.
Nature. 2016;:ePub - PMID: 27398621
Association of Exome Sequences with Cardiovascular Traits among African Americans in the Jackson Heart Study.
Circ Cardiovasc Genet. 2016;:ePub - PMID: 27422940
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Nat Commun. 2016;7:12342 - PMID: 27503255
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Nat Genet. 2016;:ePub - PMID: 27533299
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Sci Rep. 2016;6:31531 - PMID: 27572114
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Nat Commun. 2016;7:12869 - PMID: 27619887
High-throughput discovery of novel developmental phenotypes.
Nature. 2016;:ePub - PMID: 27626380
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts.
J Am Acad Child Adolesc Psychiatry. 2016;55(10):896-905.e6 - PMID: 27663945
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.
Bioinformatics. 2016;:ePub - PMID: 27663502
A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer.
Cancer Discov. 2016;:ePub - PMID: 27655433
Characterization of candidate genes in inflammatory bowel disease-associated risk loci.
JCI Insight. 2016;1(13):e87899 - PMID: 27668286
Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet. 2016;48(10):1296 - PMID: 27681292
The ExAC browser: displaying reference data information from over 60 000 exomes.
Nucleic Acids Res. 2016;:ePub - PMID: 27899611
A framework for the detection of de novo mutations in family-based sequencing data.
Eur J Hum Genet. 2016;:ePub - PMID: 27876817
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Nat Commun. 2016;7:13293 - PMID: 27796292 - PMCID: PMC5095512
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Nat Neurosci. 2016;19(12):1563-1565 - PMID: 27694993 - PMCID: PMC5127781
No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.
PLoS Genet. 2016;12(10):e1006343 - PMID: 27792727 - PMCID: PMC5085024
TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation.
Cell Rep. 2016;17(11):2955-2965 - PMID: 27974209
Analysis of survival with modified docetaxel, cisplatin, fluorouracil (mDCF), and bevacizumab (BEV) in patients with metastatic gastroesophageal (GE) adenocarcinoma: Results of a phase II clinical trial.
J Clin Oncol. 2009;27(15_suppl):4512 - PMID: 27962705
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration.
Hum Mol Genet. 2016;:ePub - PMID: 28011711
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet. 2017;:ePub - PMID: 28067909
Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-wide Association Study.
Gastroenterology. 2016;:ePub - PMID: 28043905
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Nat Genet. 2017;:ePub - PMID: 28191890
The Weighting is the Hardest Part: On the Behavior of the Likelihood Ratio Test and the Score Test Under a Data-Driven Weighting Scheme in Sequenced Samples.
Twin Res Hum Genet. 2017;:1-11 - PMID: 28238293
Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.
Am J Psychiatry. 2017;:appiajp201716101115 - PMID: 28253736
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.
Am J Hum Genet. 2017;:ePub - PMID: 28285767
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.
Am J Hum Genet. 2017;:ePub - PMID: 28343628
A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Diabetes. 2017;:ePub - PMID: 28341696
Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
Nat Genet. 2017;:ePub - PMID: 28369035
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
Am J Hum Genet. 2017;:ePub - PMID: 28366442
Phenome-wide heritability analysis of the UK Biobank.
PLoS Genet. 2017;13(4):e1006711 - PMID: 28388634
Overweight or about right? A norm comparison explanation of perceived weight status.
Obes Sci Pract. 2017;3(1):36-43 - PMID: 28392930 - PMCID: PMC5358078
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature. 2017;544(7649):235-239 - PMID: 28406212
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Neuron. 2017;94(3):486-499.e9 - PMID: 28472652
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nat Genet. 2017;:ePub - PMID: 28504703
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet. 2017;49(6):969 - PMID: 28546579
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
Neuron. 2017;94(6):1101-1111.e7 - PMID: 28641109
Quantifying the genetic correlation between multiple cancer types.
Cancer Epidemiol Biomarkers Prev. 2017;:ePub - PMID: 28637796
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature. 2017;:ePub - PMID: 28658209
Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders.
Nat Neurosci. 2017;:ePub - PMID: 28671696
Effects of Lactobacillus rhamnosus GG on the maturation and differentiation of dendritic cells in rotavirus-infected mice.
Benef Microbes. 2017;:1-12 - PMID: 28670908
Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease.
Am J Hum Genet. 2017;101(1):75-86 - PMID: 28686857
Anti-high mobility group box-1 (HMGB1) antibody attenuates kidney damage following experimental crush injury and the possible role of the tumor necrosis factor-α and c-Jun N-terminal kinase pathway.
J Orthop Surg Res. 2017;12(1):110 - PMID: 28701229
Polygenic risk for schizophrenia and neurocognitive performance in patients with schizophrenia.
Genes Brain Behav. 2017;:ePub - PMID: 28719030
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet. 2017;:ePub - PMID: 28719003
Discovery of stimulation-responsive immune enhancers with CRISPR activation.
Nature. 2017;:ePub - PMID: 28854172
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