Carole Shum

Hospital for Sick Children — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

10h-index980citations24works4.52yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(10), Autism Spectrum Disorder Research(6), Pluripotent Stem Cells Research(6), Neuroscience and Neuropharmacology Research(4), CRISPR and Genetic Engineering(4)

Publications24 total

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Neurobiology of Disease·2025· 1 citedOpen Access
An X-linked long non-coding RNA, PTCHD1-AS, regulates autistic behaviors in humans and in mice
2025Open Access
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
The American Journal of Human Genetics·2024· 6 citedOpen Access
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons
Stem Cell Reports·2024· 11 citedOpen Access
Combining Off‐flow, a Nextflow‐coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs
Computational and Structural Biotechnology Journal·2023· 2 citedOpen Access
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locus
2023· 4 citedOpen Access
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
BMC Medical Genomics·2023· 8 citedOpen Access
Additional file 1 of Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
Figshare·2023Open Access
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Cell·2022· 259 citedOpen Access
Attenuated transcriptional response to pro-inflammatory cytokines in schizophrenia hiPSC-derived neural progenitor cells
Brain Behavior and Immunity·2022· 12 citedOpen Access
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
2022· 3 citedOpen Access
P.0166 Suppression of the inflammatory response in schizophrenia hipsc-derived neural progenitors: a gene-environment interaction study
European Neuropsychopharmacology·2021
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals
Biological Psychiatry·2020· 63 citedOpen Access
Δ9-tetrahydrocannabinol and 2-AG decreases neurite outgrowth and differentially affects ERK1/2 and Akt signaling in hiPSC-derived cortical neurons
Molecular and Cellular Neuroscience·2020· 34 cited
Atypical neurogenesis and excitatory-inhibitory progenitor generation in induced pluripotent stem cell (iPSC) from autistic individuals
2019· 5 cited
∆ <sup>9</sup> -tetrahydrocannabinol negatively regulates neurite outgrowth and Akt signaling in hiPSC-derived cortical neurons
2018· 1 citedOpen Access
Atypical neurogenesis in induced pluripotent stem cell (iPSC) from autistic individuals
2018· 9 citedOpen Access
Psychosis Risk Candidate ZNF804A Localizes to Synapses and Regulates Neurite Formation and Dendritic Spine Structure
Biological Psychiatry·2016· 102 citedOpen Access
Utilizing induced pluripotent stem cells (iPSCs) to understand the actions of estrogens in human neurons
Hormones and Behavior·2015· 24 citedOpen Access
iPS Cells and Spinocerebellar Ataxia
Stem cell biology and regenerative medicine·2015· 2 cited
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Frequent Co-authors

Jennifer Howe(9), Jack Price(9), Deepak P. Srivastava(9), Stephen W. Scherer(7), Bhooma Thiruvahindrapuram(6), Clarrisa A. Bradley(6), Agnes L. Nishimura(5), Brett Trost(5), Miriam S. Reuter(5), Giovanna Pellecchia(5), Roland Nagy(5), Gráinne McAlonan(5), Mehdi Zarrei(4), Sylvia Lamoureux(4), Mayada Elsabbagh(4), Evdokia Anagnostou(4), Katherine Warre‐Cornish(4), Lucia Dutan(4), Sagnik Bhattacharyya(4), Christopher E. Shaw(3)