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1. Full Text Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
by Smedley, Damian and Robinson, Peter N
Genome medicine, ISSN 1756-994X, 07/2015, Volume 7, Issue 1, pp. 81 - 81
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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2. Full Text BioMart - Biological queries made easy
by Smedley, Damian and Haider, Syed and Ballester, Benoit and Holland, Richard and London, Darin and Thorisson, Gudmundur and Kasprzyk, Arek
BMC genomics, ISSN 1471-2164, 01/2009, Volume 10, Issue 1, pp. 22 - 22
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Databases, Genetic | User-Computer Interface | Computational Biology - methods | Internet | Database Management Systems | Biological complexity | Usage | Research | Applications software | Index Medicus | Bioinformatics | Computer Science
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3. Full Text BioMart Central Portal-unified access to biological data
by Haider, Syed and Ballester, Benoit and Smedley, Damian and Zhang, Junjun and Rice, Peter and Kasprzyk, Arek
Nucleic acids research, ISSN 0305-1048, 7/2009, Volume 37, Issue suppl_2, pp. W23 - W27
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Databases, Genetic | User-Computer Interface | Biology | Software | Internet | Index Medicus | Bioinformatics | Computer Science
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4. Full Text An overview of Ensembl
by Birney, Ewan and Andrews, T. Daniel and Bevan, Paul and Caccamo, Mario and Chen, Yuan and Clarke, Laura and Coates, Guy and Cuff, James and Curwen, Val and Cutts, Tim and Down, Thomas and Eyras, Eduardo and Fernandez-Suarez, Xose M and Gane, Paul and Gibbins, Brian and Gilbert, James and Hammond, Martin and Hotz, Hans-Rudolf and Iyer, Vivek and Jekosch, Kerstin and Kahari, Andreas and Kasprzyk, Arek and Keefe, Damian and Keenan, Stephen and Lehvaslaiho, Heikki and McVicker, Graham and Melsopp, Craig and Meidl, Patrick and Mongin, Emmanuel and Pettett, Roger and Potter, Simon and Proctor, Glenn and Rae, Mark and Searle, Steve and Slater, Guy and Smedley, Damian and Smith, James and Spooner, Will and Stabenau, Arne and Stalker, James and Storey, Roy and Ureta-Vidal, Abel and Woodwark, K. Cara and Cameron, Graham and Durbin, Richard and Cox, Anthony and Hubbard, Tim and Clamp, Michele
Genome research, ISSN 1088-9051, 05/2004, Volume 14, Issue 5, pp. 925 - 928
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Computational Biology - trends | Linkage (Genetics) | Nucleotide sequence | Analysis | Computational biology | Index Medicus | ENSEMBL Special
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5. Full Text Next-generation diagnostics and disease-gene discovery with the Exomiser
by Smedley, Damian and Jacobsen, Julius O.B and Jäger, Marten and Köhler, Sebastian and Holtgrewe, Manuel and Schubach, Max and Siragusa, Enrico and Zemojtel, Tomasz and Buske, Orion J and Washington, Nicole L and Bone, William P and Haendel, Melissa A and Robinson, Peter N
Nature protocols, ISSN 1754-2189, 12/2015, Volume 10, Issue 12, pp. 2004 - 2015
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biochemical Research Methods | Science & Technology | Exome | Software | High-Throughput Nucleotide Sequencing - methods | Genetic Testing - methods | Sequence Analysis, DNA - methods | Humans | Genetic disorders | Genes | Exome sequencing | Diagnosis | Health aspects | Identification and classification | Methods | Genetic screening | Index Medicus
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6. Full Text High-throughput mouse phenomics for characterizing mammalian gene function
by Brown, Steve D. M and Holmes, Chris C and Mallon, Ann-Marie and Meehan, Terrence F and Smedley, Damian and Wells, Sara
Nature reviews. Genetics, ISSN 1471-0056, 06/2018, Volume 19, Issue 6, pp. 357 - 370
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Animals | Humans | Databases, Genetic | Mice | Genome | Genomics - methods | Usage | Rats as laboratory animals | Genetic variation | Analysis | Machine learning | Genetic aspects | Research | High-throughput screening (Biochemical assaying) | Genotype & phenotype | Learning algorithms | Animal models | Phenotypes | Rodents | Phenotyping | Genetic diversity | Index Medicus
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7. Full Text Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes
by White, Jacqueline K and Gerdin, Anna-Karin and Karp, Natasha A and Ryder, Ed and Buljan, Marija and Bussell, James N and Salisbury, Jennifer and Clare, Simon and Ingham, Neil J and Podrini, Christine and Houghton, Richard and Estabel, Jeanne and Bottomley, Joanna R and Melvin, David G and Sunter, David and Adams, Niels C and Baker, Lauren and Barnes, Caroline and Beveridge, Ryan and Cambridge, Emma and Carragher, Damian and Chana, Prabhjoat and Clarke, Kay and Hooks, Yvette and Igosheva, Natalia and Ismail, Ozama and Jackson, Hannah and Kane, Leanne and Lacey, Rosalind and Lafont, David Tino and Lucas, Mark and Maguire, Simon and McGill, Katherine and McIntyre, Rebecca E and Messager, Sophie and Mottram, Lynda and Mulderrig, Lee and Pearson, Selina and Protheroe, Hayley J and Roberson, Laura-Anne and Salsbury, Grace and Sanderson, Mark and Sanger, Daniel and Shannon, Carl and Thompson, Paul C and Tuck, Elizabeth and Vancollie, Valerie E and Brackenbury, Lisa and Bushell, Wendy and Cook, Ross and Dalvi, Priya and Gleeson, Diane and Habib, Bishoy and Hardy, Matt and Liakath-Ali, Kifayathullah and Miklejewska, Evelina and Price, Stacey and Sethi, Debarati and Trenchard, Elizabeth and von Schiller, Dominique and Vyas, Sapna and West, Anthony P and Woodward, John and Wynn, Elizabeth and Evans, Arthur and Gannon, David and Griffiths, Mark and Holroyd, Simon and Iyer, Vivek and Kipp, Christian and Lewis, Morag and Li, Wei and Oakley, Darren and Richardson, David and Smedley, Damian and Agu, Chukwuma and Bryant, Jackie and Delaney, Liz and Gueorguieva, Nadia I and Tharagonnet, Helen and Townsend, Anne J and Biggs, Daniel and Brown, Ellen and Collinson, Adam and Dumeau, Charles-Etienne and Grau, Evelyn and Harrison, Sarah and Harrison, James and Ingle, Catherine E and Kundi, Helen and Madich, Alla and Mayhew, Danielle and Metcalf, Tom and Newman, Stuart and Pass, Johanna and Pearson, Laila and Reynolds, Helen and Sinclair, Caroline and Wardle-Jones, Hannah and Woods, Michael and ... and The Sanger Institute Mouse Genetics Project and Sanger Inst Mouse Genetics Project and Sanger Institute Mouse Genetics Project
Cell (Cambridge), ISSN 0092-8674, 07/2013, Volume 154, Issue 2, pp. 452 - 464
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Genome-Wide Association Study | Phenotype | Animals | Disease - genetics | Female | Male | Mice | Genetic Techniques | Genes, Essential | Disease Models, Animal | Mice, Knockout | Genetic research | Analysis | Genomics | Index Medicus | Resource
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8. Full Text A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
by Smedley, Damian and Schubach, Max and Jacobsen, Julius O.B and Köhler, Sebastian and Zemojtel, Tomasz and Spielmann, Malte and Jäger, Marten and Hochheiser, Harry and Washington, Nicole L and McMurry, Julie A and Haendel, Melissa A and Mungall, Christopher J and Lewis, Suzanna E and Groza, Tudor and Valentini, Giorgio and Robinson, Peter N
American journal of human genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 595 - 606
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Point Mutation - genetics | Genome-Wide Association Study | Phenotype | Algorithms | Gene Frequency | Humans | Genetic Diseases, Inborn - genetics | Mutation - genetics | Open Reading Frames - genetics | Machine Learning | Genome, Human - genetics | Genotype & phenotype | Genomes | Biological variation | Simulation | Artificial intelligence | Chromosomes | Index Medicus
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9. Full Text Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium
by Meehan, Terrence F and Conte, Nathalie and West, David B and Jacobsen, Julius O and Mason, Jeremy and Warren, Jonathan and Chen, Chao-Kung and Tudose, Ilinca and Relac, Mike and Matthews, Peter and Karp, Natasha and Santos, Luis and Fiegel, Tanja and Ring, Natalie and Westerberg, Henrik and Greenaway, Simon and Sneddon, Duncan and Morgan, Hugh and Codner, Gemma F and Stewart, Michelle E and Brown, James and Horner, Neil and Haendel, Melissa and Washington, Nicole and Mungall, Christopher J and Reynolds, Corey L and Gallegos, Juan and Gailus-Durner, Valerie and Sorg, Tania and Pavlovic, Guillaume and Bower, Lynette R and Moore, Mark and Morse, Iva and Gao, Xiang and Tocchini-Valentini, Glauco P and Obata, Yuichi and Cho, Soo Young and Seong, Je Kyung and Seavitt, John and Beaudet, Arthur L and Dickinson, Mary E and Herault, Yann and Wurst, Wolfgang and De Angelis, Martin Hrabe and Kent Lloyd, K.C and Flenniken, Ann M and Nutter, Lauryl M J and Newbigging, Susan and McKerlie, Colin and Justice, Monica J and Murray, Stephen A and Svenson, Karen L and Braun, Robert E and White, Jacqueline K and Bradley, Allan and Flicek, Paul and Wells, Sara and Skarnes, William C and Adams, David J and Parkinson, Helen and Mallon, Ann-Marie and Brown, Steve D.M and Smedley, Damian and Int Mouse Phenotyping Consortium and International Mouse Phenotyping Consortium and The International Mouse Phenotyping Consortium
Nature genetics, ISSN 1061-4036, 08/2017, Volume 49, Issue 8, pp. 1231 - 1238
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Phenotype | Animals | Humans | Female | Genetic Diseases, Inborn | Male | Mice | Gene Knockout Techniques | Disease Models, Animal | Mice, Knockout | Usage | Genetic aspects | Research | Animal models in research | Genomics | Heart | Animal models | Ontology | Disease | Genes | Disorders | Genomes | Statistical methods | Gene sequencing | Consortia | Signal transduction | Annotations | Databases | Rodents | Right ventricular dysplasia | Automation | Gene expression | Ventricular dysplasia | Diseases | Studies | Acids | Phenotyping | Diagnostic systems | Mutation | Ventricle | Index Medicus
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