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DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons

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Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington’s Disease PSC-Derived Striatal Neurons

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Integrating CRISPR Engineering and hiPSC-Derived 2D Disease Modeling Systems

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Human iPSC-Based Models for the Development of Therapeutics Targeting Neurodegenerative Lysosomal Storage Diseases

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NOCICEPTRA: Gene and microRNA Signatures and Their Trajectories Characterizing Human iPSC‐Derived Nociceptor Maturation

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Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

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Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease

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Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome

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Everolimus Rescues the Phenotype of Elastin Insufficiency in Patient Induced Pluripotent Stem Cell–Derived Vascular Smooth Muscle Cells

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Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models

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Phenotyping Neurodegeneration in Human iPSCs

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Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential

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KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylationPreprint

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Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability

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Modeling inherited retinal diseases using human induced pluripotent stem cell derived photoreceptor cells and retinal pigment epithelial cells

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hiPSC-derived cortical neurons from ADHD individuals reveal dysregulated glutamatergic development

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Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders

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Upregulated GIRK2 counteracts ethanol-induced changes in excitability & respiration in human neurons

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7q11.23 CNV alters protein synthesis and REST-mediated neuronal intrinsic excitabilityPreprint

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Multi-donor human cortical Chimeroids reveal individual susceptibility to neurotoxic triggersPreprint

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iPSC-modelling reveals genetic associations and morphological alterations of oligodendrocytes in schizophrenia

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Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

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CHD8 haploinsufficiency alters the developmental trajectories of human excitatory and inhibitory neurons linking autism phenotypes with transient cellular defectsPreprint

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The RNA content of extracellular vesicles from gene-edited PRPF31+/− hiPSC-RPE show potential as biomarkers of retinal degeneration

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Modeling rare genetic disease with patient-derived induced pluripotent stem cells: reassessment of the minimum numbers of lines needed

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