Author: Aris N Economides

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Preprints

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

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  • In genomics: 1,125
• Year to date:
  • Site-wide: 57,101
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The finger 2 tip loop of Activin A is required for the formation of its non-signaling complex with ACVR1 and type II Bone Morphogenetic Protein receptors

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  • Site-wide: 51,924
  • In cell biology: 2,273
• Year to date:
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Targeted delivery of acid alpha-glucosidase corrects skeletal muscle phenotypes in Pompe disease mice

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  • Site-wide: 53,627
  • In bioengineering: 975
• Year to date:
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Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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  • Site-wide: 57,878
  • In genetics: 2,755
• Year to date:
  • Site-wide: 49,797
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The cortico-striatal circuit regulates sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport

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  • Site-wide: 58,297
  • In neuroscience: 8,840
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Odd skipped-related 1 (Osr1) identifies muscle-interstitial fibro-adipogenic progenitors (FAPs) activated by acute injury

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  • Site-wide: 64,999
  • In cell biology: 2,947
• Year to date:
  • Site-wide: 119,851
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Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

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  • Site-wide: 67,985
  • In genetics: 3,178
• Year to date:
  • Site-wide: 29,406
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  • Site-wide: 29,406

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

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  • Site-wide: 73,344
  • In genetics: 3,426
• Year to date:
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Saracatinib is an efficacious clinical candidate for fibrodysplasia ossificans progressiva

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  • Site-wide: 86,423
  • In molecular biology: 2,573
• Year to date:
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