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Author Details

Steve D M Brown
Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.
1985
285
69
PMIDPaper TitleJournal TitlePublished Year
37283649A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (<i>NFIX</i>) Gene Has Phenotypic Features of Marshall-Smith Syndrome.JBMR Plus2023
34328547INFRAFRONTIER quality principles in systemic phenotyping.Mamm Genome2022
35552317Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen.Pain2022
36034774AAV-mediated rescue of <i>Eps8</i> expression <i>in vivo</i> restores hair-cell function in a mouse model of recessive deafness.Mol Ther Methods Clin Dev2022
35918318Human-specific gene CT47 blocks PRMT5 degradation to lead to meiosis arrest.Cell Death Discov2022
35944064Multivariate phenotype analysis enables genome-wide inference of mammalian gene function.PLoS Biol2022
35100259Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing.PLoS Genet2022
34585723Reorganization of the Neurobiology of Language After Sentence Overlearning.Cereb Cortex2022
31591642Soft windowing application to improve analysis of high-throughput phenotyping data.Bioinformatics2020
32090293Precision and Functional Genomics.Mamm Genome2020
33370286Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.PLoS Genet2020
32710572Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea.J Physiol2020
30395686An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.J Bone Miner Res2019
31892712Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background.Sci Rep2019
31448880Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.EMBO Mol Med2019
30830987Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.J Bone Miner Res2019
30854487Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.Commun Biol2019
30265765Cellular content plays a crucial role in Non-typeable Haemophilus influenzae infection of preinflamed Junbo mouse middle ear.Cell Microbiol2019
29348434Identification of genetic elements in metabolism by high-throughput mouse phenotyping.Nat Commun2018
30100824The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.Conserv Genet2018
29992973A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.Sci Rep2018
29902593Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality.Acta Biomater2018
30464345Helios is a key transcriptional regulator of outer hair cell maturation.Nature2018
30566859A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.Cell Rep2018
30283900An <i>N</i>-Ethyl-<i>N</i>-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.JBMR Plus2018
29449589Loss of the homeostatic protein BPIFA1, leads to exacerbation of otitis media severity in the Junbo mouse model.Sci Rep2018
29726933Genetic landscape of auditory dysfunction.Hum Mol Genet2018
29626206High-throughput mouse phenomics for characterizing mammalian gene function.Nat Rev Genet2018
29600991Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".Nat Methods2018
29509900A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.Hum Mol Genet2018
28663585CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Nat Commun2017
28194447Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.JCI Insight2017
29479578N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (<i>Ap2s1</i>) Mutations Establish <i>Ap2s1</i> Loss-of-Function Mice.JBMR Plus2017
29084757CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.EMBO Mol Med2017
29026089A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.Nat Commun2017
29144450Corrigendum: High-throughput discovery of novel developmental phenotypes.Nature2017
29046478Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.JCI Insight2017
28650954Prevalence of sexual dimorphism in mammalian phenotypic traits.Nat Commun2017
28650483Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.Nat Genet2017
28806779A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways.PLoS Genet2017
26876963Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.Genome Med2016
26657825Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis.Bone2016
26611891A new model for non-typeable Haemophilus influenzae middle ear infection in the Junbo mutant mouse.Dis Model Mech2016
27660200An in vitro model of murine middle ear epithelium.Dis Model Mech2016
27959934Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.PLoS One2016
27626380High-throughput discovery of novel developmental phenotypes.Nature2016
27207593Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.Am J Pathol2016
27534441Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.Nat Commun2016
27376238Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing.Nat Genet2016
26740663Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss.J Neurosci2016
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Collaborators

Mary Lyon Centre at Medical Research Council
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The Turing Institute
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German Center for Diabetes Research (DZD e.V.)
Co-authored papers 24
Institut Clinique de la Souris (ICS), Universite de Strasbourg, CNRS, INSERM
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Monterotondo Mouse Clinic (MMC), Italian National Research Council (CNR)
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Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital
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University of California davis
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Harwell Institute
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Mary Lyon Centre at Medical Research Council
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European Bioinformatics Institute
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William Harvey Research Institute, Queen Mary University of London
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European Molecular Biology Laboratory - European Bioinformatics Institute
Co-authored papers 13
European Bioinformatics Institute
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European Bioinformatics Institute
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Wellcome Trust Sanger Institute
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Baylor College of Medicine
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the University of Texas Health Science Center at Houston
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MRC Harwell Institute
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The Hospital for Sick Children
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Universite de Strasbourg, CNRS, INSERM, Institut de La Clinique de La Souris
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The Turing Institute
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Wellcome Sanger Institute
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Institute of Experimental Genetics, German Mouse Clinic
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Columbia University.
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