Daniel G Macarthur


Ontology type: schema:Person     


Person Info

NAME

Daniel G

SURNAME

Macarthur

Publications in SciGraph latest 50 shown

  • 2022-08-03 Transcriptome variation in human tissues revealed by long-read sequencing in NATURE
  • 2021-06-09 Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes in NATURE COMMUNICATIONS
  • 2021-06-07 Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs in NATURE COMMUNICATIONS
  • 2021-03-01 Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-02-03 Author Correction: Transcript expression-aware annotation improves rare variant interpretation in NATURE
  • 2021-02-03 Author Correction: A structural variation reference for medical and population genetics in NATURE
  • 2021-02-03 Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-02-03 Author Correction: Evaluating drug targets through human loss-of-function genetic variation in NATURE
  • 2021-02-02 Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals in NATURE COMMUNICATIONS
  • 2021-02-02 Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes in NATURE COMMUNICATIONS
  • 2021-01-22 Author Correction: The effect of LRRK2 loss-of-function variants in humans in NATURE MEDICINE
  • 2020-08-29 Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-05-27 Evaluating drug targets through human loss-of-function genetic variation in NATURE
  • 2020-05-27 A structural variation reference for medical and population genetics in NATURE
  • 2020-05-27 The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2020-05-27 Transcript expression-aware annotation improves rare variant interpretation in NATURE
  • 2020-05-27 Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes in NATURE COMMUNICATIONS
  • 2020-05-27 The effect of LRRK2 loss-of-function variants in humans in NATURE MEDICINE
  • 2020-05-27 Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals in NATURE COMMUNICATIONS
  • 2020-01-08 A brief history of human disease genetics in NATURE
  • 2019-09-26 Severe neurodevelopmental disease caused by a homozygous TLK2 variant in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-04-25 Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-11-26 Reply to ‘Selective effects of heterozygous protein-truncating variants’ in NATURE GENETICS
  • 2018-10-16 Phenome-wide association studies across large population cohorts support drug target validation in NATURE COMMUNICATIONS
  • 2018-08-21 STRetch: detecting and discovering pathogenic short tandem repeat expansions in GENOME BIOLOGY
  • 2018-07-30 Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness in SKELETAL MUSCLE
  • 2018-07-16 A synthetic-diploid benchmark for accurate variant-calling evaluation in NATURE METHODS
  • 2018-05-16 A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica in NATURE COMMUNICATIONS
  • 2018-03-08 Correction: Corrigendum: Landscape of X chromosome inactivation across human tissues in NATURE
  • 2017-11-17 Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-10-12 Landscape of X chromosome inactivation across human tissues in NATURE
  • 2017-10-12 The impact of rare variation on gene expression across tissues in NATURE
  • 2017-10-12 Dynamic landscape and regulation of RNA editing in mammals in NATURE
  • 2017-09-06 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-08-29 Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes in NATURE COMMUNICATIONS
  • 2017-07-12 Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness in NATURE COMMUNICATIONS
  • 2017-05-18 Using high-resolution variant frequencies to empower clinical genome interpretation in GENETICS IN MEDICINE
  • 2017-04-13 Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity in NATURE
  • 2017-04-03 Estimating the selective effects of heterozygous protein-truncating variants from human exome data in NATURE GENETICS
  • 2017-03-15 Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans in INTERNATIONAL JOURNAL OF OBESITY
  • 2017-03-15 A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03-03 Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases in NPJ GENOMIC MEDICINE
  • 2017-02-13 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples in NATURE GENETICS
  • 2017-01-30 Human disease genomics: from variants to biology in GENOME BIOLOGY
  • 2017-01-09 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome in NATURE GENETICS
  • 2016-10-31 Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects in NATURE COMMUNICATIONS
  • 2016-10-06 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States in JOURNAL OF HUMAN GENETICS
  • 2016-08-17 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-08-17 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples in GENETICS IN MEDICINE
  • 2016-08-17 Patterns of genic intolerance of rare copy number variation in 59,898 human exomes in NATURE GENETICS
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