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Author Details
Full Name
William C Skarnes
Affiliation
Wellcome Trust Sanger Institute
ORCID
Career Start Year
1986
Papers
111
H Index
58
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37398081
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
bioRxiv
2023
37670157
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
Nature
2023
37961213
Human iPSC-derived microglia sense and dampen hyperexcitability of cortical neurons carrying the epilepsy-associated SCN2A-L1342P mutation.
bioRxiv
2023
37976651
Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia.
Stem Cell Res
2023
37924815
Generation of glucocorticoid-producing cells derived from human pluripotent stem cells.
Cell Rep Methods
2023
37532928
Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
Nature
2023
36459969
A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Cell Stem Cell
2022
33369088
Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Na<sub>v</sub> 1.2 expression.
Genes Brain Behav
2021
33831364
Tackling neurodegenerative diseases with genomic engineering: A new stem cell initiative from the NIH.
Neuron
2021
34716231
Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.
J Neurosci
2021
34348148
Severe deficiency of the voltage-gated sodium channel Na<sub>V</sub>1.2 elevates neuronal excitability in adult mice.
Cell Rep
2021
34059832
Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway.
Nat Neurosci
2021
32442532
A Novel Chemically Differentiated Mouse Embryonic Stem Cell-Based Model to Study Liver Stages of Plasmodium berghei.
Stem Cell Reports
2020
31819956
Loss of IL-10 signaling in macrophages limits bacterial killing driven by prostaglandin E2.
J Exp Med
2020
31216442
Improving homology-directed repair efficiency in human stem cells.
Methods
2019
29600991
Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".
Nat Methods
2018
28533524
Enhancing the genome editing toolbox: genome wide CRISPR arrayed libraries.
Sci Rep
2017
28440293
Exploiting induced pluripotent stem cell-derived macrophages to unravel host factors influencing Chlamydia trachomatis pathogenesis.
Nat Commun
2017
28135257
One-step generation of conditional and reversible gene knockouts.
Nat Methods
2017
28096221
Efficient CRISPR/Cas9-assisted gene targeting enables rapid and precise genetic manipulation of mammalian neural stem cells.
Development
2017
29026089
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
Nat Commun
2017
28981838
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers.
Nucleic Acids Res
2017
29144450
Corrigendum: High-throughput discovery of novel developmental phenotypes.
Nature
2017
28811661
Myst2/Kat7 histone acetyltransferase interaction proteomics reveals tumour-suppressor Niam as a novel binding partner in embryonic stem cells.
Sci Rep
2017
28650483
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
Nat Genet
2017
26952987
The BAF chromatin remodelling complex is an epigenetic regulator of lineage specification in the early mouse embryo.
Development
2016
26524115
Cardiomyocytes from human pluripotent stem cells: From laboratory curiosity to industrial biomedical platform.
Biochim Biophys Acta
2016
27580957
CRISPR-Cas9 enables conditional mutagenesis of challenging loci.
Sci Rep
2016
27626380
High-throughput discovery of novel developmental phenotypes.
Nature
2016
25752829
Conditional-ready mouse embryonic stem cell derived macrophages enable the study of essential genes in macrophage function.
Sci Rep
2015
27325708
ZFP57 and the Targeted Maintenance of Postfertilization Genomic Imprints.
Cold Spring Harb Symp Quant Biol
2015
26701933
Over-expression of Plk4 induces centrosome amplification, loss of primary cilia and associated tissue hyperplasia in the mouse.
Open Biol
2015
26020497
Off-target mutations are rare in Cas9-modified mice.
Nat Methods
2015
26013980
Is mouse embryonic stem cell technology obsolete?
Genome Biol
2015
25979474
WGE: a CRISPR database for genome engineering.
Bioinformatics
2015
24194600
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Nucleic Acids Res
2014
24584192
Efficient genome modification by CRISPR-Cas9 nickase with minimal off-target effects.
Nat Methods
2014
23870131
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
Cell
2013
23912999
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.
Mamm Genome
2013
22578120
Building and sharing resources. Interview by Krystie Nybo.
Biotechniques
2012
22968824
The mammalian gene function resource: the International Knockout Mouse Consortium.
Mamm Genome
2012
22991088
Accessing data from the International Mouse Phenotyping Consortium: state of the art and future plans.
Mamm Genome
2012
22961258
Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project.
Mamm Genome
2012
22912678
Large-scale identification of microRNA targets in murine Dgcr8-deficient embryonic stem cell lines.
PLoS One
2012
22912667
MiR-25 regulates Wwp2 and Fbxw7 and promotes reprogramming of mouse fibroblast cells to iPSCs.
PLoS One
2012
20929875
The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium.
Nucleic Acids Res
2011
22020067
A scalable pipeline for highly effective genetic modification of a malaria parasite.
Nat Methods
2011
21930507
BioMart Central Portal: an open database network for the biological community.
Database (Oxford)
2011
21930503
BioMart as an integration solution for the International Knockout Mouse Consortium.
Database (Oxford)
2011
21677750
A conditional knockout resource for the genome-wide study of mouse gene function.
Nature
2011
1 - 50 of 111
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Brandon J Wainwright
The University of Queensland Diamantina Institute, The University of Queensland
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Yoichi Gondo
Tokai University School of Medicine
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Paul Denny
European Bioinformatics Institute
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1977
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Bruce J Aronow
Cincinnati Children's Hospital Medical Center
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William J Pavan
National Human Genome Research Institute, National Institutes of Health
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Collaborators
Allan Bradley
The Wellcome Trust Sanger Institute
Co-authored papers
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Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.
Co-authored papers
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Wolfgang Wurst
Institute of Developmental Genetics, German Research Center for Environmental Health
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Kent C Lloyd
University of California davis
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Martin Hrab?? de Angelis
German Center for Diabetes Research (DZD e.V.)
Co-authored papers
8
Jeremy Mason
European Molecular Biology Laboratory - European Bioinformatics Institute
Co-authored papers
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Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Mark Moore
Co-authored papers
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Ann-Marie Mallon
The Turing Institute
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7
Jacqueline K White
Wellcome Trust Sanger Institute
Co-authored papers
6
Yann Herault
Institut Clinique de la Souris (ICS), Universite de Strasbourg, CNRS, INSERM
Co-authored papers
6
David J Adams
Wellcome Sanger Institute
Co-authored papers
6
Paul Flicek
European Bioinformatics Institute
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6
Janet Rossant
The Hospital for Sick Children
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6
Helen Parkinson
European Bioinformatics Institute
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Glauco P Tocchini-Valentini
Monterotondo Mouse Clinic (MMC), Italian National Research Council (CNR)
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Monica J Justice
The Hospital for Sick Children
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John R Seavitt
Baylor College of Medicine
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Sara Wells
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Adrian Francis Stewart
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Colin McKerlie
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