Jack A Kosmicki


Ontology type: schema:Person     


Person Info

NAME

Jack A

SURNAME

Kosmicki

Publications in SciGraph latest 50 shown

  • 2022-10-03 ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma in COMMUNICATIONS BIOLOGY
  • 2022-05-30 High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease in NATURE GENETICS
  • 2021-10-18 Exome sequencing and analysis of 454,787 UK Biobank participants in NATURE
  • 2021-08-09 Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-05-20 Computationally efficient whole-genome regression for quantitative and binary traits in NATURE GENETICS
  • 2021-02-03 Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-02-03 Author Correction: Transcript expression-aware annotation improves rare variant interpretation in NATURE
  • 2020-10-23 MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk in NATURE COMMUNICATIONS
  • 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
  • 2020-05-20 Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities in NATURE COMMUNICATIONS
  • 2020-03-17 Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders in GENOME MEDICINE
  • 2020-01-13 Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations in NATURE NEUROSCIENCE
  • 2019-11-25 Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants in NATURE NEUROSCIENCE
  • 2019-07-10 Paternal-age-related de novo mutations and risk for five disorders in NATURE COMMUNICATIONS
  • 2018-12-17 Author Correction: Predicting the clinical impact of human mutation with deep neural networks in NATURE GENETICS
  • 2018-07-23 Predicting the clinical impact of human mutation with deep neural networks in NATURE GENETICS
  • 2018-06-25 De novo variants in neurodevelopmental disorders with epilepsy in NATURE GENETICS
  • 2017-05-15 Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders in NATURE GENETICS
  • 2017-02-13 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples in NATURE GENETICS
  • 2016-08-17 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-05-24 Discovery of rare variants for complex phenotypes in HUMAN GENETICS
  • 2016-03-21 Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population in NATURE GENETICS
  • 2015-04-28 Testing the accuracy of an observation-based classifier for rapid detection of autism risk in TRANSLATIONAL PSYCHIATRY
  • 2015-02-24 Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning in TRANSLATIONAL PSYCHIATRY
  • 2014-10-29 Synaptic, transcriptional and chromatin genes disrupted in autism in NATURE
  • 2014-09-09 Erratum: Testing the accuracy of an observation-based classifier for rapid detection of autism risk in TRANSLATIONAL PSYCHIATRY
  • 2014-09-01 A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2014-08-12 Testing the accuracy of an observation-based classifier for rapid detection of autism risk in TRANSLATIONAL PSYCHIATRY
  • 2012-04-10 Use of machine learning to shorten observation-based screening and diagnosis of autism in TRANSLATIONAL PSYCHIATRY
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