Works by Smedley, Damian

Results: 60

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380
By:
- Jacobsen, Julius O. B.;
- Kelly, Catherine;
- Cipriani, Valentina;
- Research Consortium, Genomics England;
- Mungall, Christopher J.;
- Reese, Justin;
- Danis, Daniel;
- Robinson, Peter N.;
- Smedley, Damian
Publication type:
Article
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655
By:
- Arachchi, Harindra;
- Wojcik, Monica H;
- Weisburd, Benjamin;
- Jacobsen, Julius O. B.;
- Valkanas, Elise;
- Baxter, Samantha;
- Byrne, Alicia B.;
- O'Donnell‐Luria, Anne H.;
- Haendel, Melissa;
- Smedley, Damian;
- MacArthur, Daniel G.;
- Philippakis, Anthony A.;
- Rehm, Heidi L.
Publication type:
Article
Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 979, doi. 10.1002/humu.22857
By:
- Mungall, Christopher J.;
- Washington, Nicole L.;
- Nguyen‐Xuan, Jeremy;
- Condit, Christopher;
- Smedley, Damian;
- Köhler, Sebastian;
- Groza, Tudor;
- Shefchek, Kent;
- Hochheiser, Harry;
- Robinson, Peter N.;
- Lewis, Suzanna E.;
- Haendel, Melissa A.
Publication type:
Article
Jannovar: A Java Library for Exome Annotation.
Published in:
Human Mutation, 2014, v. 35, n. 5, p. 548, doi. 10.1002/humu.22531
By:
- Jäger, Marten;
- Wang, Kai;
- Bauer, Sebastian;
- Smedley, Damian;
- Krawitz, Peter;
- Robinson, Peter N.
Publication type:
Article
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project.
Published in:
Human Mutation, 2013, v. 34, n. 4, p. 661, doi. 10.1002/humu.22293
By:
- Oetting, William S.;
- Robinson, Peter N.;
- Greenblatt, Marc S.;
- Cotton, Richard G.;
- Beck, Tim;
- Carey, John C.;
- Doelken, Sandra C.;
- Girdea, Marta;
- Groza, Tudor;
- Hamilton, Carol M.;
- Hamosh, Ada;
- Kerner, Berit;
- MacArthur, Jacqueline A. L.;
- Maglott, Donna R.;
- Mons, Barend;
- Rehm, Heidi L.;
- Schofield, Paul N.;
- Searle, Beverly A.;
- Smedley, Damian;
- Smith, Cynthia L.
Publication type:
Article
Linking gene expression to phenotypes via pathway information.
Published in:
Journal of Biomedical Semantics, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13326-015-0013-5
By:
- Papatheodorou, Irene;
- Oellrich, Anika;
- Smedley, Damian
Publication type:
Article
Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics.
Published in:
BMC Research Notes, 2010, v. 3, p. 1, doi. 10.1186/1756-0500-3-16
By:
- Gruenberger, Michael;
- Alberts, Rudi;
- Smedley, Damian;
- Swertz, Morris;
- Schofield, Paul;
- Schughart, Klaus
Publication type:
Article
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
PheneBank: a literature-based database of phenotypes.
Published in:
Bioinformatics, 2022, v. 38, n. 4, p. 1179, doi. 10.1093/bioinformatics/btab740
By:
- Pilehvar, Mohammad Taher;
- Bernard, Adam;
- Smedley, Damian;
- Collier, Nigel
Publication type:
Article
Fusion of splicing factor genes PSF and NonO (p54<sup>nrb</sup>) to the TFE3 gene in papillary renal cell carcinoma.
Published in:
Oncogene, 1997, v. 15, n. 18, p. 2233, doi. 10.1038/sj.onc.1201394
By:
- Clark, Jeremy;
- Lu, Yong-Jie;
- Sidhar, Sanjiv K;
- Parker, Chris;
- Gill, Sandra;
- Smedley, Damian;
- Hamoudi, Rifat;
- Linehan, W Marston;
- Shipley, Janet;
- Cooper, Colin S
Publication type:
Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Published in:
Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040460
By:
- Cipriani, Valentina;
- Pontikos, Nikolas;
- Arno, Gavin;
- Sergouniotis, Panagiotis I.;
- Lenassi, Eva;
- Penpitcha Thawong;
- Danis, Daniel;
- Michaelides, Michel;
- Webster, Andrew R.;
- Moore, Anthony T.;
- Robinson, Peter N.;
- Jacobsen, Julius O. B.;
- Smedley, Damian
Publication type:
Article
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.
Published in:
Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0199-2
By:
- Smedley, Damian;
- Robinson, Peter N.
Publication type:
Article
Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility.
Published in:
2003
By:
- Groves, Christopher J.;
- Wiltshire, Steven;
- Smedley, Damian;
- Owen, Katherine R.;
- Frayling, Timothy M.;
- Walker, Mark;
- Hitman, Graham A.;
- Levy, Jonathan C.;
- O'Rahilly, Stephen;
- Menzel, Stephan;
- Hattersley, Andrew T.;
- McCarthy, Mark I.
Publication type:
journal article
TRACER: a resource to study the regulatory architecture of the mouse genome.
Published in:
BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-215
By:
- Chao-Kung Chen;
- Symmons, Orsolya;
- Vural Uslu, Veli;
- Tsujimura, Taro;
- Ruf, Sandra;
- Smedley, Damian;
- Spitz, François
Publication type:
Article
Incremental data integration for tracking genotype-disease associations.
Published in:
PLoS Computational Biology, 2020, v. 16, n. 1, p. 1, doi. 10.1371/journal.pcbi.1007586
By:
- Konopka, Tomasz;
- Smedley, Damian
Publication type:
Article
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
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
Generation of Silver Standard Concept Annotations from Biomedical Texts with Special Relevance to Phenotypes.
Published in:
PLoS ONE, 2015, v. 10, n. 1, p. 1, doi. 10.1371/journal.pone.0116040
By:
- Oellrich, Anika;
- Collier, Nigel;
- Smedley, Damian;
- Groza, Tudor
Publication type:
Article
Characterization of chromosome 1 abnormalities in malignant melanomas.
Published in:
Genes, Chromosomes & Cancer, 2000, v. 28, n. 1, p. 121, doi. 10.1002/(SICI)1098-2264(200005)28:1<121::AID-GCC14>3.0.CO;2-O
By:
- Smedley, Damian;
- Sidhar, Sanjiv;
- Birdsall, Sandra;
- Bennett, Dorothy;
- Herlyn, Meenhard;
- Cooper, Colin;
- Shipley, Janet
Publication type:
Article
Characterization of a t(8;13)(p11;q11-12) in an atypical myeloproliferative disorder.
Published in:
Genes, Chromosomes & Cancer, 1998, v. 21, n. 1, p. 70, doi. 10.1002/(SICI)1098-2264(199801)21:1<70::AID-GCC9>3.0.CO;2-5
By:
- Smedley, Damian;
- Somers, Gino;
- Venter, Deon;
- Chow, Chung Wo;
- Cooper, Colin;
- Shipley, Janet
Publication type:
Article
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Published in:
Briefings in Bioinformatics, 2022, v. 23, n. 5, p. 1, doi. 10.1093/bib/bbac188
By:
- Jacobsen, Julius O B;
- Kelly, Catherine;
- Cipriani, Valentina;
- Robinson, Peter N;
- Smedley, Damian
Publication type:
Article
Solutions for data integration in functional genomics: a critical assessment and case study.
Published in:
Briefings in Bioinformatics, 2008, v. 9, n. 6, p. 532, doi. 10.1093/bib/bbn040
By:
- Smedley, Damian;
- Swertz, Morris A.;
- Wolstencroft, Katy;
- Proctor, Glenn;
- Zoouberakis, Michael;
- Bard, Jonathan;
- Hancock, John M.;
- Schofield, Paul
Publication type:
Article
OpenStats: A robust and scalable software package for reproducible analysis of high-throughput phenotypic data.
Published in:
PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0242933
By:
- Haselimashhadi, Hamed;
- Mason, Jeremy C.;
- Mallon, Ann-Marie;
- Smedley, Damian;
- Meehan, Terrence F.;
- Parkinson, Helen
Publication type:
Article
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
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
Variation at the IRF2 Gene and Susceptibility to Psoriasis in Chromosome 4q-Linked Families.
Published in:
Journal of Investigative Dermatology, 2004, v. 122, n. 3, p. 640, doi. 10.1046/j.0022-202X.2004.22135.x
By:
- Parkinson, James;
- Charon, Celine;
- Baker, Barbara S.;
- Powles, Anne V.;
- Rogers, Sarah;
- Caird, Ann;
- Smedley, Damian;
- Halford, Stephanie;
- Fry, Lionel;
- McCarthy, Mark I.
Publication type:
Article
Ensembl variation resources.
Published in:
BMC Genomics, 2010, v. 11, p. 293, doi. 10.1186/1471-2164-11-293
By:
- Yuan Chen;
- Cunningham, Fiona;
- Rios, Daniel;
- McLaren, William M.;
- Smith, James;
- Pritchard, Bethan;
- Spudich, Giulietta M.;
- Brent, Simon;
- Kulesha, Eugene;
- Marin-Garcia, Pablo;
- Smedley, Damian;
- Birney, Ewan;
- Flicek, Paul
Publication type:
Article
BioMart -- biological queries made easy.
Published in:
BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-22
By:
- Smedley, Damian;
- Haider, Syed;
- Ballester, Benoit;
- Holland, Richard;
- London, Darin;
- Thorisson, Gudmundur;
- Kasprzyk, Arek
Publication type:
Article
The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 4, p. 637, doi. 10.1093/hmg/7.4.637
By:
- Smedley, Damian;
- Hamoudi, Rifat;
- Clark, Jeremy;
- Warren, William;
- Abdul‐Rauf, Munah;
- Somers, Gino;
- Venter, Deon;
- Fagan, Kerry;
- Cooper, Colin;
- Shipley, Janet
Publication type:
Article
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
BioMart Central Portal—unified access to biological data.
Published in:
Nucleic Acids Research, 2009, v. 37, n. suppl_2, p. W23, doi. 10.1093/nar/gkp265
By:
- Haider, Syed;
- Ballester, Benoit;
- Smedley, Damian;
- Zhang, Junjun;
- Rice, Peter;
- Kasprzyk, Arek
Publication type:
Article
PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.
Published in:
Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav104
By:
- Collier, Nigel;
- Groza, Tudor;
- Smedley, Damian;
- Robinson, Peter N.;
- Oellrich, Anika;
- Rebholz-Schuhmann, Dietrich
Publication type:
Article
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.
Published in:
Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav005
By:
- Groza, Tudor;
- Köhler, Sebastian;
- Doelken, Sandra;
- Collier, Nigel;
- Oellrich, Anika;
- Smedley, Damian;
- Couto, Francisco M.;
- Baynam, Gareth;
- Zankl, Andreas;
- Robinson, Peter N.
Publication type:
Article
Linking tissues to phenotypes using gene expression profiles.
Published in:
Database: The Journal of Biological Databases & Curation, 2014, v. 2014, p. 1, doi. 10.1093/database/bau017
By:
- Oellrich, Anika;
- Smedley, Damian
Publication type:
Article
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
Published in:
Database: The Journal of Biological Databases & Curation, 2013, v. 2013, p. 1, doi. 10.1093/database/bat025
By:
- Smedley, Damian;
- Oellrich, Anika;
- Köhler, Sebastian;
- Ruef, Barbara;
- Genetics Project, Sanger Mouse;
- Westerfield, Monte;
- Robinson, Peter;
- Lewis, Suzanna;
- Mungall, Christopher
Publication type:
Article
CreZOO—the European virtual repository of Cre and other targeted conditional driver strains.
Published in:
Database: The Journal of Biological Databases & Curation, 2012, v. 2012, p. 1, doi. 10.1093/database/bas029
By:
- Chandras, Christina;
- Zouberakis, Michael;
- Salimova, Ekaterina;
- Smedley, Damian;
- Rosenthal, Nadia;
- Aidinis, Vassilis
Publication type:
Article
BioMart as an integration solution for the International Knockout Mouse Consortium.
Published in:
Database: The Journal of Biological Databases & Curation, 2011, v. 2011, p. 1, doi. 10.1093/database/bar028
By:
- Oakley, Darren J.;
- Iyer, Vivek;
- Skarnes, William C.;
- Smedley, Damian
Publication type:
Article
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
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
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
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
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
Published in:
Bioinformatics, 2014, v. 30, n. 22, p. 3215, doi. 10.1093/bioinformatics/btu508
By:
- Smedley, Damian;
- Köhler, Sebastian;
- Czeschik, Johanna Christina;
- Amberger, Joanna;
- Bocchini, Carol;
- Hamosh, Ada;
- Veldboer, Julian;
- Zemojtel, Tomasz;
- Robinson, Peter N.
Publication type:
Article
Using association rule mining to determine promising secondary phenotyping hypotheses.
Published in:
Bioinformatics, 2014, v. 30, n. 12, p. i52
By:
- Oellrich, Anika;
- Jacobsen, Julius;
- Papatheodorou, Irene;
- Smedley, Damian
Publication type:
Article
CYP2C19 loss‐of‐function alleles are not associated with higher prevalence of gastrointestinal bleeds in those who have been prescribed antidepressants: Analysis in a British‐South Asian cohort.
Published in:
British Journal of Clinical Pharmacology, 2023, v. 89, n. 11, p. 3432, doi. 10.1111/bcp.15762
By:
- Magavern, Emma F.;
- van Heel, David A.;
- Smedley, Damian;
- Caulfield, Mark J.
Publication type:
Article
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
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
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
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
Diffusion enables integration of heterogeneous data and user-driven learning in a desktop knowledge-base.
Published in:
PLoS Computational Biology, 2021, p. 1, doi. 10.1371/journal.pcbi.1009283
By:
- Konopka, Tomasz;
- Ng, Sandra;
- Smedley, Damian
Publication type:
Article
Essential genes: a cross-species perspective.
Published in:
Mammalian Genome, 2023, v. 34, n. 3, p. 357, doi. 10.1007/s00335-023-09984-1
By:
- Cacheiro, Pilar;
- Smedley, Damian
Publication type:
Article