No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
Eur J Hum Genet. 2014;:ePub - PMID: 25370044
Complex host genetics influence the microbiome in inflammatory bowel disease.
Genome Med. 2014;6(12):107 - PMID: 25587358
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
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.
Am J Hum Genet. 2014;95(5):509-20 - PMID: 25439097
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases.
Am J Hum Genet. 2014;95(5):535-52 - PMID: 25439723
Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.
J Affect Disord. 2014;172C:453-461 - PMID: 25451450
A Role for Noncoding Variation in Schizophrenia.
Cell Rep. 2014;9(4):1417-1429 - PMID: 25453756
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence.
N Engl J Med. 2014;:ePub - PMID: 25426838
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nat Genet. 2014;:ePub - PMID: 25401298
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
Nat Commun. 2014;5:3934 - PMID: 25653097
Synaptic, transcriptional and chromatin genes disrupted in autism.
Nature. 2014;:ePub - PMID: 25363760
Genetic and epigenetic fine mapping of causal autoimmune disease variants.
Nature. 2014;:ePub - PMID: 25363779
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
Proc Natl Acad Sci U S A. 2014;:ePub - PMID: 25288738
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
Gut. 2014;:ePub - PMID: 25248455
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
J Clin Invest. 2014;:ePub - PMID: 25250574
Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children.
J Am Acad Child Adolesc Psychiatry. 2014;53(10):1123-1129.e6 - PMID: 25245356
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
Nat Commun. 2014;5:4757 - PMID: 25187353
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
Am J Psychiatry. 2014;:ePub - PMID: 25158072
Selectivity in genetic association with sub-classified migraine in women.
PLoS Genet. 2014;10(5):e1004366 - PMID: 24852292 - PMCID: PMC4031047
Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease.
PLoS Genet. 2014;10(12):e1004801 - PMID: 25502724 - PMCID: PMC4263376
Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease.
PLoS Genet. 2014;10(12):e1004801 - PMID: 25502724 - PMCID: PMC4263376
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Nature. 2014;514(7520):92-7 - PMID: 25231870 - PMCID: PMC4185210
PyBamView: a browser-based application for viewing short read alignments.
Bioinformatics. 2014;30(23):3405-7 - PMID: 25147359
EWS-FLI1 utilizes divergent chromatin remodeling mechanisms to directly activate or repress enhancer elements in Ewing sarcoma.
Cancer Cell. 2014;26(5):668-81 - PMID: 25453903 - PMCID: PMC4492343
The landscape of human STR variation.
Genome Res. 2014;24(11):1894-904 - PMID: 25135957 - PMCID: PMC4216929
OTX2 duplication is implicated in hemifacial microsomia.
PLoS One. 2014;9(5):e96788 - PMID: 24816892 - PMCID: PMC4016008
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
Am J Hum Genet. 2014;95(5):535-52 - PMID: 25439723 - PMCID: PMC4225595
Biological insights from 108 schizophrenia-associated genetic loci.
Nature. 2014;511(7510):421-7 - PMID: 25056061 - PMCID: PMC4112379
Rediscovery rate estimation for assessing the validation of significant findings in high-throughput studies.
Brief Bioinform. 2014;16(4):563-75 - PMID: 25256289
Neurocognitive abilities in the general population and composite genetic risk scores for attention-deficit hyperactivity disorder.
J Child Psychol Psychiatry. 2014;56(6):648-56 - PMID: 25280069 - PMCID: PMC4431584
Genetic risk for attention-deficit/hyperactivity disorder contributes to neurodevelopmental traits in the general population.
Biol Psychiatry. 2014;76(8):664-71 - PMID: 24673882 - PMCID: PMC4183378
Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants.
J Am Acad Child Adolesc Psychiatry. 2014;53(7):761-70.e26 - PMID: 24954825 - PMCID: PMC4074351
Factor structure of autistic traits in children with ADHD.
J Autism Dev Disord. 2014;44(1):204-15 - PMID: 23748436 - PMCID: PMC3898364
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Am J Hum Genet. 2014;94(3):437-52 - PMID: 24607388 - PMCID: PMC3951950
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy.
Am J Hum Genet. 2014;94(5):760-9 - PMID: 24791901
Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.
PLoS Genet. 2014;10(5):e1004304 - PMID: 24786518 - PMCID: PMC4006732
Copy number variation in schizophrenia in Sweden.
Mol Psychiatry. 2014;:ePub - PMID: 24776740
Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.
Curr Protoc Hum Genet. 2014;81:7.23.1-7.23.21 - PMID: 24763994
Statistical Properties of Single-Marker Tests for Rare Variants.
Twin Res Hum Genet. 2014;:1-8 - PMID: 24739319
Statistical power and significance testing in large-scale genetic studies.
Nat Rev Genet. 2014;15(5):335-46 - PMID: 24739678
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.
Proc Natl Acad Sci U S A. 2014;111(16):5968-73 - PMID: 24711425 - PMCID: PMC4000861
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol. 2014;15(3):R53 - PMID: 24667040
Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.
Proc Natl Acad Sci U S A. 2014;111(21):7741-7746 - PMID: 24821797 - PMCID: PMC4040621
Genetic modifiers and subtypes in schizophrenia: Investigations of age at onset, severity, sex and family history.
Schizophr Res. 2014;154(1-3):48-53 - PMID: 24581549
Genetic Association Analysis of 300 Genes Identifies a Risk Haplotype in SLC18A2 for Posttraumatic Stress Disorder in two Independent Samples.
Neuropsychopharmacology. 2014;:ePub - PMID: 24525708
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Hum Mol Genet. 2014;23(12):3316-26 - PMID: 24474471 - PMCID: PMC4030770
SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.
J Crohns Colitis. 2014;:ePub - PMID: 24461721
De novo mutations in schizophrenia implicate synaptic networks.
Nature. 2014;506(7487):179-84 - PMID: 24463507
A polygenic burden of rare disruptive mutations in schizophrenia.
Nature. 2014;506(7487):185-90 - PMID: 24463508
Searching for missing heritability: Designing rare variant association studies.
Proc Natl Acad Sci U S A. 2014;111(4):E455-64 - PMID: 24443550 - PMCID: PMC3910587
Comorbidity of Severe Psychotic Disorders With Measures of Substance Use.
JAMA Psychiatry. 2014;71(3):248-54 - PMID: 24382686
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
Mol Autism. 2014;5:31 - PMID: 24860643 - PMCID: PMC4032628
Whole-genome analyses of whole-brain data: working within an expanded search space.
Nat Neurosci. 2014;17(6):791-800 - PMID: 24866045
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.
Nat Genet. 2014;:ePub - PMID: 24952745
Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.
Science. 2014;344(6189):1280-5 - PMID: 24926019
Whole-genome sequence variation, population structure and demographic history of the Dutch population.
Nat Genet. 2014;:ePub - PMID: 24974849
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.
PLoS Genet. 2014;10(6):e1004423 - PMID: 24945404 - PMCID: PMC4063697
No association between RORA polymorphisms and PTSD in two independent samples.
Mol Psychiatry. 2014;:ePub - PMID: 25048002
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.
J Am Acad Child Adolesc Psychiatry. 2014;53(8):910-9 - PMID: 25062598
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.
PLoS Genet. 2014;10(7):e1004494 - PMID: 25078778
Improving accuracy of rare variant imputation with a two-step imputation approach.
Eur J Hum Genet. 2014;:ePub - PMID: 24939589
Quality control and conduct of genome-wide association meta-analyses.
Nat Protoc. 2014;9(5):1192-212 - PMID: 24762786 - PMCID: PMC4083217
A framework for the interpretation of de novo mutation in human disease.
Nat Genet. 2014;:ePub - PMID: 25086666
66



