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Haploinsufficiency

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  • Decreased aggression and increased repetitive behavior in Pten haploinsufficient mice  Academic Article
  • Genome editing in hPSCs reveals GATA6 haploinsufficiency and a genetic interaction with GATA4 in human pancreatic development  Academic Article
  • Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder  Academic Article
  • Human gene essentiality  Academic Article
  • Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses  Academic Article
  • Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests  Academic Article
  • Pten mutations alter brain growth trajectory and allocation of cell types through elevated β-catenin signaling  Academic Article
  • Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease  Academic Article
  • Social behavioral deficits coincide with the onset of seizure susceptibility in mice lacking serotonin receptor 2c  Academic Article
  • Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly  Academic Article
  • Telomere dysfunction drives aberrant hematopoietic differentiation and myelodysplastic syndrome  Academic Article
  • The end game of chemical genetics: target identification  Academic Article

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