Works by Smedley, Damian


Results: 63
    1

    Applying the ARRIVE Guidelines to an In Vivo Database.

    Published in:
    PLoS Biology, 2015, v. 13, n. 5, p. 1, doi. 10.1371/journal.pbio.1002151
    By:
    • Karp, Natasha A.;
    • Meehan, Terry F.;
    • Morgan, Hugh;
    • Mason, Jeremy C.;
    • Blake, Andrew;
    • Kurbatova, Natalja;
    • Smedley, Damian;
    • Jacobsen, Julius;
    • Mott, Richard F.;
    • Iyer, Vivek;
    • Matthews, Peter;
    • Melvin, David G.;
    • Wells, Sara;
    • Flenniken, Ann M.;
    • Masuya, Hiroshi;
    • Wakana, Shigeharu;
    • White, Jacqueline K.;
    • Lloyd, K. C. Kent;
    • Reynolds, Corey L.;
    • Paylor, Richard
    Publication type:
    Article
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    The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium.

    Published in:
    Nucleic Acids Research, 2011, v. 39, n. suppl_1, p. D849, doi. 10.1093/nar/gkq879
    By:
    • Ringwald, Martin;
    • Iyer, Vivek;
    • Mason, Jeremy C.;
    • Stone, Kevin R.;
    • Tadepally, Hamsa D.;
    • Kadin, James A.;
    • Bult, Carol J.;
    • Eppig, Janan T.;
    • Oakley, Darren J.;
    • Briois, Sebastien;
    • Stupka, Elia;
    • Maselli, Vincenza;
    • Smedley, Damian;
    • Liu, Songyan;
    • Hansen, Jens;
    • Baldock, Richard;
    • Hicks, Geoff G.;
    • Skarnes, William C.
    Publication type:
    Article
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    A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 17, p. 2681, doi. 10.1093/hmg/ddad094
    By:
    • Crane-Smith, Zoe;
    • Castro, Sandra C P De;
    • Nikolopoulou, Evanthia;
    • Wolujewicz, Paul;
    • Smedley, Damian;
    • Lei, Yunping;
    • Mather, Emma;
    • Santos, Chloe;
    • Hopkinson, Mark;
    • Pitsillides, Andrew A;
    • Consortium, Genomics England Research;
    • Finnell, Richard H;
    • Ross, M Elisabeth;
    • Copp, Andrew J;
    • Greene, Nicholas D E
    Publication type:
    Article
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    Use of animal models for exome prioritization of rare disease genes

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O19
    By:
    • Smedley, Damian;
    • Kohler, Sebastian;
    • Bone, William;
    • Oellrich, Anika;
    • Jacobsen, Jules;
    • Genetics Project, Sanger Mouse;
    • Kai Wang;
    • Mungall, Chris;
    • Washington, Nicole;
    • Bauer, Sebastian;
    • Seelow, Dominic;
    • Krawitz, Peter;
    • Boerkel, Cornelius;
    • Gilissen, Christian;
    • Haendel, Melissa;
    • Lewis, Suzanna E;
    • Robinson, Peter N
    Publication type:
    Article
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    Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.

    Published in:
    Nature Communications, 2014, v. 5, n. 4, p. 3540, doi. 10.1038/ncomms4540
    By:
    • Liakath-Ali, Kifayathullah;
    • Vancollie, Valerie E.;
    • Heath, Emma;
    • Smedley, Damian P.;
    • Estabel, Jeanne;
    • Sunter, David;
    • DiTommaso, Tia;
    • White, Jacqueline K.;
    • Ramirez-Solis, Ramiro;
    • Smyth, Ian;
    • Steel, Karen P.;
    • Watt, Fiona M.
    Publication type:
    Article
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    Efficient reinterpretation of rare disease cases using Exomiser.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00456-2
    By:
    • Vestito, Letizia;
    • Jacobsen, Julius O. B.;
    • Walker, Susan;
    • Cipriani, Valentina;
    • Harris, Nomi L.;
    • Haendel, Melissa A.;
    • Mungall, Christopher J.;
    • Robinson, Peter;
    • Smedley, Damian
    Publication type:
    Article
    27

    International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. D1, p. D1038, doi. 10.1093/nar/gkac972
    By:
    • Groza, Tudor;
    • Gomez, Federico Lopez;
    • Mashhadi, Hamed Haseli;
    • Muñoz-Fuentes, Violeta;
    • Gunes, Osman;
    • Wilson, Robert;
    • Cacheiro, Pilar;
    • Frost, Anthony;
    • Keskivali-Bond, Piia;
    • Vardal, Bora;
    • McCoy, Aaron;
    • Cheng, Tsz Kwan;
    • Santos, Luis;
    • Wells, Sara;
    • Smedley, Damian;
    • Mallon, Ann-Marie;
    • Parkinson, Helen
    Publication type:
    Article
    28

    The BioMart community portal: an innovative alternative to large, centralized data repositories.

    Published in:
    Nucleic Acids Research, 2015, v. 43, n. W1, p. W589, doi. 10.1093/nar/gkv350
    By:
    • Smedley, Damian;
    • Haider, Syed;
    • Durinck, Steffen;
    • Pandini, Luca;
    • Provero, Paolo;
    • Allen, James;
    • Arnaiz, Olivier;
    • Awedh, Mohammad Hamza;
    • Baldock, Richard;
    • Barbiera, Giulia;
    • Bardou, Philippe;
    • Beck, Tim;
    • Blake, Andrew;
    • Bonierbale, Merideth;
    • Brookes, Anthony J.;
    • Bucci, Gabriele;
    • Buetti, Iwan;
    • Burge, Sarah;
    • Cabau, Cedric;
    • Carlson, Joseph W.
    Publication type:
    Article
    29

    Deletions of chromosomal regulatory boundaries are associated with congenital disease.

    Published in:
    Genome Biology, 2014, v. 15, n. 7, p. 423, doi. 10.1186/s13059-014-0423-1
    By:
    • Ibn-Salem, Jonas;
    • Köhler, Sebastian;
    • Love, Michael I.;
    • Ho-Ryun Chung;
    • Ni Huang;
    • Hurles, Matthew E.;
    • Haendel, Melissa;
    • Washington, Nicole L.;
    • Smedley, Damian;
    • Mungall, Christopher J.;
    • Lewis, Suzanna E.;
    • Ott, Claus-Eric;
    • Bauer, Sebastian;
    • Schofield, Paul N.;
    • Mundlos, Stefan;
    • Spielmann, Malte;
    • Robinson, Peter N.
    Publication type:
    Article
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    De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 11, p. 3681, doi. 10.1093/brain/awae193
    By:
    • Benkirane, Mehdi;
    • Bonhomme, Marion;
    • Morsy, Heba;
    • Safgren, Stephanie L;
    • Marelli, Cecilia;
    • Chaussenot, Annabelle;
    • Smedley, Damian;
    • Cipriani, Valentina;
    • Sainte-Agathe, Jean-Madeleine de;
    • Ding, Can;
    • Larrieu, Lise;
    • Vestito, Letizia;
    • Margot, Henri;
    • Lesca, Gaetan;
    • Ramond, Francis;
    • Castrioto, Anna;
    • Baux, David;
    • Verheijen, Jan;
    • Sansa, Emna;
    • Giunti, Paola
    Publication type:
    Article
    32

    Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009
    By:
    • Chen, Zhongbo;
    • Tucci, Arianna;
    • Cipriani, Valentina;
    • Gustavsson, Emil K;
    • Ibañez, Kristina;
    • Reynolds, Regina H;
    • Zhang, David;
    • Vestito, Letizia;
    • García, Alejandro Cisterna;
    • Sethi, Siddharth;
    • Brenton, Jonathan W;
    • García-Ruiz, Sonia;
    • Fairbrother-Browne, Aine;
    • Gil-Martinez, Ana-Luisa;
    • Consortium, Genomics England Research;
    • Wood, Nick;
    • Hardy, John A;
    • Smedley, Damian;
    • Houlden, Henry;
    • Botía, Juan
    Publication type:
    Article
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    Next-generation diagnostics and disease-gene discovery with the Exomiser.

    Published in:
    Nature Protocols, 2015, v. 10, n. 12, p. 1, doi. 10.1038/nprot.2015.124
    By:
    • Smedley, Damian;
    • Jacobsen, Julius O. B.;
    • Jager, Marten;
    • Köhler, Sebastian;
    • Holtgrewe, Manuel;
    • Schubach, Max;
    • Siragusa, Enrico;
    • Zemojtel, Tomasz;
    • Buske, Orion J.;
    • Washington, Nicole L.;
    • Bone, William P.;
    • Haendel, Melissa A.;
    • Robinson, Peter N.
    Publication type:
    Article
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    Mouse Resource Browser—a database of mouse databases.

    Published in:
    Database: The Journal of Biological Databases & Curation, 2010, v. 2010, p. 1, doi. 10.1093/database/baq010
    By:
    • Zouberakis, Michael;
    • Chandras, Christina;
    • Swertz, Morris;
    • Smedley, Damian;
    • Gruenberger, Michael;
    • Bard, Jonathan;
    • Schughart, Klaus;
    • Rosenthal, Nadia;
    • Hancock, John M.;
    • Schofield, Paul N.;
    • Kollias, George;
    • Aidinis, Vassilis
    Publication type:
    Article
    42

    Finding and sharing: new approaches to registries of databases and services for the biomedical sciences.

    Published in:
    Database: The Journal of Biological Databases & Curation, 2010, v. 2010, p. 1, doi. 10.1093/database/baq014
    By:
    • Smedley, Damian;
    • Schofield, Paul;
    • Chao-Kung Chen;
    • Aidinis, Vassilis;
    • Ainali, Chrysanthi;
    • Bard, Jonathan;
    • Balling, Rudi;
    • Birney, Ewan;
    • Blake, Andrew;
    • Bongcam-Rudloff, Erik;
    • Brookes, Anthony J.;
    • Cesareni, Gianni;
    • Chandras, Christina;
    • Eppig, Janan;
    • Flicek, Paul;
    • Gkoutos, Georgios;
    • Greenaway, Simon;
    • Gruenberger, Michael;
    • Hériché, Jean-Karim;
    • Lyall, Andrew
    Publication type:
    Article
    43

    Models for financial sustainability of biological databases and resources.

    Published in:
    Database: The Journal of Biological Databases & Curation, 2009, v. 2009, p. 1, doi. 10.1093/database/bap017
    By:
    • Chandras, Christina;
    • Weaver, Thomas;
    • Zouberakis, Michael;
    • Smedley, Damian;
    • Schughart, Klaus;
    • Rosenthal, Nadia;
    • Hancock, John M.;
    • Kollias, George;
    • Schofield, Paul N.;
    • Aidinis, Vassilis
    Publication type:
    Article
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    Improving prenatal diagnosis through standards and aggregation.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 4, p. 454, doi. 10.1002/pd.6522
    By:
    • Duyzend, Michael H.;
    • Cacheiro, Pilar;
    • Jacobsen, Julius O. B.;
    • Giordano, Jessica;
    • Brand, Harrison;
    • Wapner, Ronald J.;
    • Talkowski, Michael E.;
    • Robinson, Peter N.;
    • Smedley, Damian
    Publication type:
    Article
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    Dual colour fluorescence in situ hybridization to paraffin-embedded samples to deduce the presence of the der(X)t(X;18)(p11.2;q11.2) and involvement of either the SSX1 or SSX2 gene: a diagnostic and prognostic aid for synovial sarcoma.

    Published in:
    Journal of Pathology, 1999, v. 187, n. 4, p. 490, doi. 10.1002/(SICI)1096-9896(199903)187:4<490::AID-PATH274>3.0.CO;2-X
    By:
    • Lu, Yong-Jie;
    • Birdsall, Sandra;
    • Summersgill, Brenda;
    • Smedley, Damian;
    • Osin, Pinchas;
    • Fisher, Cyril;
    • Shipley, Janet
    Publication type:
    Article
    49

    Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.

    Published in:
    BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06105-4
    By:
    • Bridges, Yasemin;
    • Souza, Vinicius de;
    • Cortes, Katherina G.;
    • Haendel, Melissa;
    • Harris, Nomi L.;
    • Korn, Daniel R.;
    • Marinakis, Nikolaos M.;
    • Matentzoglu, Nicolas;
    • McLaughlin, James A.;
    • Mungall, Christopher J.;
    • Odell, Aaron;
    • Osumi-Sutherland, David;
    • Robinson, Peter N.;
    • Smedley, Damian;
    • Jacobsen, Julius O. B.
    Publication type:
    Article
    50

    IMPC impact on preclinical mouse models.

    Published in:
    Mammalian Genome, 2025, v. 36, n. 2, p. 384, doi. 10.1007/s00335-025-10104-4
    By:
    • Hölter, Sabine M.;
    • Cacheiro, Pilar;
    • Smedley, Damian;
    • Kent Lloyd, K. C.
    Publication type:
    Article