GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

Por Antanaviciute, Agne, Daly, Catherine, Crinnion, Laura A., Markham, Alexander F., Watson, Christopher M., Bonthron, David T., Carr, Ian M.
Publicado no Bioinformatics (2015)

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms

Por Burghel, George J., Hurst, Carolyn D., Watson, Christopher M., Chambers, Phillip A., Dickinson, Helen, Roberts, Paul, Knowles, Margaret A.
Publicado no Biomed Res Int (2015)

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization

Por Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Publicado no Bioinformatics (2015)

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Por Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Publicado no PLoS One (2016)

Reducing Accidental Dislodgement of the Percutaneous Endoscopic Gastrostomy: A Prospective Trial of the “SafetyBreak” Device

Por Rosenberger, Laura H., Guidry, Christopher A., Davis, John P., Hranjec, Tjasa, Johnston, Vonda K., Wages, Nolan A., Watson, Christopher M., Sawyer, Robert G.
Publicado no Surg Innov (2015)

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Por Watson, Christopher M., Crinnion, Laura A., Berry, Ian R., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S., Dobbie, Angus, Carr, Ian M., Bonthron, David T.
Publicado no BMC Med Genet (2016)

Characterizing hospital workers' willingness to report to duty in an influenza pandemic through threat- and efficacy-based assessment

Por Catlett Christina L, Hsu Edbert B, Thompson Carol B, Barnett Daniel J, Balicer Ran D, Watson Christopher M, Semon Natalie L, Gwon Howard S, Links Jonathan M
Publicado em 2010-07-01

Characterizing hospital workers' willingness to report to duty in an influenza pandemic through threat- and efficacy-based assessment

Por Balicer, Ran D, Barnett, Daniel J, Thompson, Carol B, Hsu, Edbert B, Catlett, Christina L, Watson, Christopher M, Semon, Natalie L, Gwon, Howard S, Links, Jonathan M
Publicado em 2010

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

Por Watson, Christopher M, Crinnion, Laura A, Murphy, Helen, Newbould, Melanie, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Sheridan, Eamonn, Bonthron, David T, Smith, Audrey
Publicado no J Med Genet (2016)

Structure of Ubiquitin-fold Modifier 1-specific Protease UfSP2

Por Ha, Byung Hak, Jeon, Young Joo, Shin, Sang Chul, Tatsumi, Kanako, Komatsu, Masaaki, Tanaka, Keiji, Watson, Christopher M., Wallis, Gillian, Chung, Chin Ha, Kim, Eunice EunKyeong
Publicado em 2011

Characterizing Hospital Workers' Willingness to Respond to a Radiological Event

Por Balicer, Ran D., Catlett, Christina L., Barnett, Daniel J., Thompson, Carol B., Hsu, Edbert B., Morton, Melinda J., Semon, Natalie L., Watson, Christopher M., Gwon, Howard S., Links, Jonathan M.
Publicado em 2011

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Por Watson, Christopher M., Crinnion, Laura A., Gurgel‐Gianetti, Juliana, Harrison, Sally M., Daly, Catherine, Antanavicuite, Agne, Lascelles, Carolina, Markham, Alexander F., Pena, Sergio D. J., Bonthron, David T., Carr, Ian M.
Publicado no Hum Mutat (2015)

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Por Poulter, James A., Smith, Claire E. L., Murrillo, Gina, Silva, Sandra, Feather, Sally, Howell, Marianella, Crinnion, Laura, Bonthron, David T., Carr, Ian M., Watson, Christopher M., Inglehearn, Chris F., Mighell, Alan J.
Publicado no Mol Genet Genomic Med (2015)

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Por Watson, Christopher M, Crinnion, Laura A, Morgan, Joanne E, Harrison, Sally M, Diggle, Christine P, Adlard, Julian, Lindsay, Helen A, Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T, Taylor, Graham R, Carr, Ian M
Publicado no Hum Mutat (2014)

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Por Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Publicado em 2014

Obesity Is Not Associated with Antimicrobial Treatment Failure for Intra-Abdominal Infection

Por Dietch, Zachary C., Duane, Therese M., Cook, Charles H., O'Neill, Patrick J., Askari, Reza, Napolitano, Lena M., Namias, Nicholas, Watson, Christopher M., Dent, Daniel L., Edwards, Brandy L., Shah, Puja M., Guidry, Christopher A., Davies, Stephen W., Willis, Rhett N., Sawyer, Robert G.
Publicado no Surg Infect (Larchmt) (2016)

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Por Diggle, Christine P., Martinez-Garay, Isabel, Molnar, Zoltan, Brinkworth, Martin H., White, Ed, Fowler, Ewan, Hughes, Ruth, Hayward, Bruce E., Carr, Ian M., Watson, Christopher M., Crinnion, Laura, Asipu, Aruna, Woodman, Ben, Coletta, P. Louise, Markham, Alexander F., Dear, T. Neil, Bonthron, David T., Peckham, Michelle, Morrison, Ewan E., Sheridan, Eamonn
Publicado no PLoS One (2017)

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

Por Ravesh, Zeinab, El Asrag, Mohammed E., Weisschuh, Nicole, McKibbin, Martin, Reuter, Peggy, Watson, Christopher M., Baumann, Britta, Poulter, James A., Sajid, Sundus, Panagiotou, Evangelia S., O’Sullivan, James, Abdelhamed, Zakia, Bonin, Michael, Soltanifar, Mehdi, Black, Graeme C.M., Din, Muhammad Amin-ud, Toomes, Carmel, Ansar, Muhammad, Inglehearn, Chris F., Wissinger, Bernd, Ali, Manir
Publicado no Mol Vis (2015)

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Por Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Publicado em 2014

Large-Scale Analysis of Association Between GDF5 and FRZB Variants and Osteoarthritis of the Hip, Knee, and Hand

Por Evangelou, Evangelos, Chapman, Kay, Meulenbelt, Ingrid, Karassa, Fotini B., Loughlin, John, Carr, Andrew, Doherty, Michael, Doherty, Sally, Gómez-Reino, Juan J., Gonzalez, Antonio, Halldorsson, Bjarni V., Hauksson, Valdimar B., Hofman, Albert, Hart, Deborah J., Ikegawa, Shiro, Ingvarsson, Thorvaldur, Jiang, Qing, Jonsdottir, Ingileif, Jonsson, Helgi, Kerkhof, Hanneke J. M., Kloppenburg, Margreet, Lane, Nancy E., Li, Jia, Lories, Rik J., van Meurs, Joyce B. J., Näkki, Annu, Nevitt, Michael C., Rodriguez-Lopez, Julio, Shi, Dongquan, Slagboom, P. Eline, Stefansson, Kari, Tsezou, Aspasia, Wallis, Gillian A., Watson, Christopher M., Spector, Tim D., Uitterlinden, Andre G., Valdes, Ana M., Ioannidis, John P. A.
Publicado no Arthritis Rheum (2009)