Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
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Whole-genome analyses of whole-brain data: working within an expanded search space.
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Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population.
JAMA. 2014;311(22):2305-2314 - PMID: 24915262
Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
Nat Methods. 2014;:ePub - PMID: 24952909
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
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Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.
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Whole-genome sequence variation, population structure and demographic history of the Dutch population.
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Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel Loci in the genetic regulation of bone mass attainment.
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No association between RORA polymorphisms and PTSD in two independent samples.
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De novo CNVs in Bipolar Affective Disorder and Schizophrenia.
Hum Mol Genet. 2014;:ePub - PMID: 25055870
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
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Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.
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Improving accuracy of rare variant imputation with a two-step imputation approach.
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Quality control and conduct of genome-wide association meta-analyses.
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Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition.
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A framework for the interpretation of de novo mutation in human disease.
Nat Genet. 2014;:ePub - PMID: 25086666
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
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Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
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Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children.
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
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Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
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Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
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Genetic and epigenetic fine mapping of causal autoimmune disease variants.
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Synaptic, transcriptional and chromatin genes disrupted in autism.
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No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
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Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence.
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A Role for Noncoding Variation in Schizophrenia.
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Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.
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Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases.
Am J Hum Genet. 2014;95(5):535-52 - PMID: 25439723
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.
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Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation.
Curr Opin Neurobiol. 2014;30C:131-138 - PMID: 25544106
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
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Complex host genetics influence the microbiome in inflammatory bowel disease.
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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.
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Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
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No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
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Exome Sequencing in Suspected Monogenic Dyslipidemias.
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Efficient Bayesian mixed-model analysis increases association power in large cohorts.
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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.
Nat Genet. 2015;:ePub - PMID: 25642630
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder.
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
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Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
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The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
Hum Mutat. 2015;:ePub - PMID: 25684150
Second-generation PLINK: rising to the challenge of larger and richer datasets.
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Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
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2014 curt stern award: a tryst with genetics.
Am J Hum Genet. 2015;96(3):369-71 - PMID: 25748355
Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.
Hum Mol Genet. 2015;:ePub - PMID: 25788521
The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome.
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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
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