William C. Skarnes

Jackson Laboratory — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

28h-index8.0kcitations76works3.82yr avg
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Research Topics

CRISPR and Genetic Engineering(35), Pluripotent Stem Cells Research(26), Animal Genetics and Reproduction(10), Neuroscience and Neuropharmacology Research(6), Neuroinflammation and Neurodegeneration Mechanisms(6)

Publications75 total

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Human Genetics and Genomics Advances·2025Open Access
Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical Organoids
2025Open Access
A xeno-free protocol for rapid differentiation of human iPSC-derived microglia from the KOLF2.1J reference line
2025Open Access
Triglyceride metabolism controls inflammation and microglial phenotypes associated with APOE4
Cell Reports·2025· 8 citedOpen Access
Dissecting the biological impact of <i>GBA1</i> mutations using multi-omics in an isogenic setting
2025· 1 citedOpen Access
Human microglia in brain assembloids display region- specific diversity and respond to hyperexcitable neurons carrying <i>SCN2A</i> mutation: Microglial diversity and response in assembloids
2025· 3 citedOpen Access
Autism-associated <i>SCN2A</i> deficiency disrupts cortico-striatal circuitry in human brain assembloids
2025· 2 citedOpen Access
Prevention of Transgene Silencing During Human Pluripotent Stem Cell Differentiation
2025· 6 citedOpen Access
HAND1, partially mediated through ape-specific LTR binding, is essential for human extra-embryonic mesenchyme derivation from iPSCs
Cell Reports·2025Open Access
Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated <i>Scn2a</i> -deficiency
2025· 8 cited
JAX_DPC: Genotyping and selection of whole-gene knockout (KO) and critical exon (CE) deletion edited clones v1
2025Open Access
JAX_DPC: Genotyping and selection of PTC+1 knockout edited clones v1
2025Open Access
JAX_DPC: Protocol to generate whole-gene knockout (KO) and critical exon (CE) deletion in iPSCs (KOLF2.2) v1
2025Open Access
JAX_DPC: Protocol for generating PTC+1 knockout alleles in iPSCs (KOLF2.2J) v1
2025Open Access
Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons
Genes·2025· 3 citedOpen Access
Human IPSC-Derived Microglia Sense and Dampen Hyperexcitability of Cortical Neurons Carrying the Epilepsy-Associated<i>SCN2A</i>-L1342P Mutation
Journal of Neuroscience·2024· 9 citedOpen Access
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia
Nature Communications·2024· 18 citedOpen Access
Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modeling
Cell stem cell·2024· 11 citedOpen Access
Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modelling
2024· 3 citedOpen Access
Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia
Stem Cell Research·2023· 3 citedOpen Access
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Frequent Co-authors

Justin A. McDonough(9), Michael E. Ward(8), Jingliang Zhang(8), Zhefu Que(8), Yang Yang(8), Xiaoling Chen(7), Jiaxiang Wu(7), Mark Cookson(6), Tiange Xiao(6), Maria I. Olivero-Acosta(6), Vivek Iyer(5), Daryl A. Bosco(5), Florian T. Merkle(5), Muriel Eaton(5), Chris Yuan(5), Kyle Wettschurack(5), Alex Hodgkins(4), Daniel M. Ramos(4), Bruce R. Conklin(4), Salome Funes(4)