Mark J Daly

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Mark J



Publications in SciGraph latest 50 shown

  • 2019-03 A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment in NATURE NEUROSCIENCE
  • 2019-02 Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort in GENES & IMMUNITY
  • 2018-12 Host genetic variation and its microbiome interactions within the Human Microbiome Project in GENOME MEDICINE
  • 2018-12 Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study in NATURE COMMUNICATIONS
  • 2018-11-26 Reply to ‘Selective effects of heterozygous protein-truncating variants’ in NATURE GENETICS
  • 2018-08-14 Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation in MOLECULAR PSYCHIATRY
  • 2018-05 An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder in NATURE GENETICS
  • 2018-02 ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties in MOLECULAR PSYCHIATRY
  • 2018-01 The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders in MOLECULAR PSYCHIATRY
  • 2018-01 Principles and methods of in-silico prioritization of non-coding regulatory variants in HUMAN GENETICS
  • 2017-12 Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection in SCIENTIFIC REPORTS
  • 2017-12 Mosaic mutations in blood DNA sequence are associated with solid tumor cancers in NPJ GENOMIC MEDICINE
  • 2017-09 Discovery of stimulation-responsive immune enhancers with CRISPR activation in NATURE
  • 2017-07 Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders in NATURE GENETICS
  • 2017-07 Fine-mapping inflammatory bowel disease loci to single-variant resolution in NATURE
  • 2017-05 Estimating the selective effects of heterozygous protein-truncating variants from human exome data in NATURE GENETICS
  • 2017-04-25 Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability in MOLECULAR PSYCHIATRY
  • 2017-04-12 Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity in NATURE
  • 2017-04 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples in NATURE GENETICS
  • 2017-04 Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-02 A framework for the detection of de novo mutations in family-based sequencing data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-11 Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD in SCIENTIFIC REPORTS
  • 2016-10-31 Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects in NATURE COMMUNICATIONS
  • 2016-10 Patterns of genic intolerance of rare copy number variation in 59,898 human exomes in NATURE GENETICS
  • 2016-10 Association between polygenic risk for schizophrenia, neurocognition and social cognition across development in TRANSLATIONAL PSYCHIATRY
  • 2016-08 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-06 Phenotypic extremes in rare variant study designs in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-05 Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population in NATURE GENETICS
  • 2016-02 Schizophrenia risk from complex variation of complement component 4 in NATURE
  • 2016-01 Abundant contribution of short tandem repeats to gene expression variation in humans in NATURE GENETICS
  • 2015-12 Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE in BMC PHARMACOLOGY AND TOXICOLOGY
  • 2015-11 Partitioning heritability by functional annotation using genome-wide association summary statistics in NATURE GENETICS
  • 2015-11 An atlas of genetic correlations across human diseases and traits in NATURE GENETICS
  • 2015-04 The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort in MOLECULAR PSYCHIATRY
  • 2015-03 LD Score regression distinguishes confounding from polygenicity in genome-wide association studies in NATURE GENETICS
  • 2015-02 Genetic and epigenetic fine mapping of causal autoimmune disease variants in NATURE
  • 2015-02 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 in NATURE GENETICS
  • 2015-02 Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways in NATURE NEUROSCIENCE
  • 2014-12 Rare deleterious mutations of the gene EFR3A in autism spectrum disorders in MOLECULAR AUTISM
  • 2014-12 Complex host genetics influence the microbiome in inflammatory bowel disease in GENOME MEDICINE
  • 2014-11 Synaptic, transcriptional and chromatin genes disrupted in autism in NATURE
  • 2014-09 A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2014-08 Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’ in MOLECULAR PSYCHIATRY
  • 2014-07 Biological insights from 108 schizophrenia-associated genetic loci in NATURE
  • 2013-12 Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder in MOLECULAR AUTISM
  • 2013-11 Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration in NATURE GENETICS
  • 2012-11 Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease in NATURE
  • 2012-08 Genetic architectures of psychiatric disorders: the emerging picture and its implications in NATURE REVIEWS GENETICS
  • 2012-06 Extremely low-coverage sequencing and imputation increases power for genome-wide association studies in NATURE GENETICS
  • 2012-04-04 Patterns and rates of exonic de novo mutations in autism spectrum disorders in NATURE
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