المؤلفون: Amanda E Links, David Draper, Elizabeth Lee, Jessica Guzman, Zaheer Valivullah, Valerie Maduro, Vlad Lebedev, Maxim Didenko, Garrick Tomlin, Michael Brudno, Marta Girdea, Sergiu Dumitriu, Andrew M Arnold, Bert Coessens, Steven Verhoeven, William Bone, David Adams, Cornelius F Boerkoel, William A Gahl, Murat Sincan

المصدر: Frontiers in Medicine, Vol 3 (2016)

مصطلحات موضوعية: Translational research, precision medicine, Information System, process management system, ontology-based phenotyping, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fmed.2016.00039/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/27a2f0f1be204193ae13693192d4a198

المؤلفون: Justin Foong, Marta Girdea, James Stavropoulos, Michael Brudno

المصدر: PLoS ONE, Vol 10, Iss 10, p e0139656 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4593641?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/601d11d19b474607a5aa4a7fd7552a9b

المؤلفون: Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea, Meredith Gillespie, Orion Buske, Sergiu Dumitriu, Veronika Koltunova, Arun Ramani, Kym M. Boycott, Michael Brudno

مصطلحات موضوعية: Phenotype, Rare Diseases, Genotype, Information Dissemination, Genetics, Humans, Genomics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76d2586ccac58aa4af5ecb24bf6527c6
https://doi.org/10.22541/au.163389956.69631312/v1

المؤلفون: Melissa A. Haendel, Cornelius F. Boerkoel, Nicole L. Washington, Murat Sincan, William A. Gahl, Christopher J. Mungall, David W. Draper, Amanda E. Links, Heather Trang, Ariane Soldatos, Lynne A. Wolfe, Nicole Vasilevsky, William P. Bone, Elizabeth M. J. Lee, Michael Brudno, Elise D. Flynn, Peter N. Robinson, Catherine Groden, Colleen E. Wahl, Marta Girdea, Orion J. Buske, Damian Smedley, Julius O.B. Jacobsen, Rena A. Godfrey, Michele Nehrebecky, David R. Adams, Elise Valkanas, Sebastian Köhler, Gretchen Golas, Cynthia J. Tifft, Thomas C. Markello, Camilo Toro, Joie Davis

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Patients, phenotype, ved/biology.organism_classification_rank.species, model organisms, 03 medical and health sciences, Mice, Data sequences, Rare Diseases, Databases, Genetic, Exome Sequencing, Medicine, Animals, Humans, Exome, Original Research Article, Model organism, Genetics (clinical), Exome sequencing, Genetic Association Studies, Zebrafish, Genetics, business.industry, ved/biology, Extramural, Computational Biology, Genetic Variation, Phenotype, undiagnosed diseases, United States, 3. Good health, Disease Models, Animal, 030104 developmental biology, semantic comparison, National Institutes of Health (U.S.), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c81ae459c26c21044b1ae811370320e
http://europepmc.org/articles/PMC4916229

المؤلفون: Christopher J. Mungall, Nara Sobreira, Melissa A. Haendel, Ganesh J. Swaminathan, Michael Brudno, Peter N. Robinson, Anthony J. Brookes, Kym M. Boycott, Sharon F. Terry, Ada Hamosh, Benedict Paten, Knox Carey, Andriy Misyura, Heidi L. Rehm, Danielle R. Azzariti, Peter E.M. Taschner, Matthew E. Hurles, Johan T. den Dunnen, Catherine A. Brownstein, Richard A. Gibbs, Nicole L. Washington, Michael A. Gonzalez, Cassie Doll, Justin Paschall, Helen V. Firth, Orion J. Buske, Sergiu Dumitriu, Marta Girdea, Ben Hutton, Han G. Brunner, Stephan Züchner, Joel B. Krier, Lijia Huang, Stephanie O.M. Dyke, Anthony A. Philippakis, Sergi Beltran, François Schiettecatte, Ingrid A. Holm

المساهمون: MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Philippakis, AA; Azzariti, DR; Beltran, S; Brookes, AJ; Brownstein, CA; Brudno, M; et al.(2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36(10), 915-921. doi: 10.1002/humu.22858. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2mv1v458
Human mutation, vol 36, iss 10
Human Mutation, 36(10), 915-921
Human Mutation, 36(10), 915-921. Wiley
Human Mutation, 36, 915-21
Human Mutation, 36, 10, pp. 915-21

مصطلحات موضوعية: IRDiRC, Clinical Sciences, Information Dissemination, rare disease, Biology, Bioinformatics, genomic API, Article, World Wide Web, Databases, Rare Diseases, Genetic, matchmaking, Databases, Genetic, Genetics, Humans, Genetic Predisposition to Disease, human, gene, genome, Genetics (clinical), Genetic Association Studies, Pace, Genetics & Heredity, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Application programming interface, Serendipity, Human Genome, GA4GH, gene discovery, sequence, 3. Good health, Data sharing, Matchmaker Exchange, GA4GH, IRDiRC, Scalability, Database Management Systems, Haystack, Software, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3674b7124c7ae62b984c8bc1cf290e80
https://doi.org/10.1002/humu.22858

المؤلفون: Nicole L. Washington, Chandree L. Beaulieu, Melissa A. Haendel, Orion J. Buske, William A. Gahl, Marta Girdea, Taila Hartley, Michael Brudno, William P. Bone, Heather Trang, Cornelius F. Boerkoel, Andriy Misyura, Kym M. Boycott, Sergiu Dumitriu, Tal Friedman, Amanda E. Links, David R. Adams, Peter N. Robinson, Bailey Gallinger

المصدر: Human Mutation. 36:931-940

مصطلحات موضوعية: Candidate gene, Genotype, Information Dissemination, Genetic Variation, Web Browser, Biology, Bioinformatics, Phenotype, Article, 3. Good health, User-Computer Interface, Rare Diseases, Semantic similarity, Case records, Databases, Genetic, Genetic variation, Genetics, Humans, Genetic Predisposition to Disease, Exome, Software, Genetics (clinical), Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b1160c77486b4bb71253891b557e49b
https://doi.org/10.1002/humu.22851

المؤلفون: Robin Z. Hayeems, Ronald D. Cohn, Michael Brudno, Jasmin Bhawra, Iris Cohn, Cheryl Shuman, Kate Tsiplova, Sarah Bowdin, Marta Girdea, Raveen K. Basran, Shinya Ito, Wendy J. Ungar, Stephen W. Scherer, D James Stavropoulos, Christian R. Marshall, Courtney Hum, M. Stephen Meyn, Nasim Monfared

مصطلحات موضوعية: 0301 basic medicine, Cancer genome sequencing, medicine.medical_specialty, Canada, Microarray, Cost consequences, Bioinformatics, Article, 03 medical and health sciences, Health care, Genetics, Medicine, Humans, Genetic Testing, Child, Genetics (clinical), Exome sequencing, health care economics and organizations, Genetic testing, Oligonucleotide Array Sequence Analysis, Whole genome sequencing, medicine.diagnostic_test, Whole Genome Sequencing, business.industry, 030104 developmental biology, Emergency medicine, Costs and Cost Analysis, business, Pediatric care

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc42a94720f4239e631916fe387bc241
https://europepmc.org/articles/PMC5865210/

المؤلفون: Jack Goldblatt, Michael Brudno, Gareth Baynam, Peter N. Robinson, Peter Claes, Stefanie Kung, Mark Walters, Marta Girdea, Matthew I. Bellgard, Tudor Groza, Peter LeSouëf, David Gillett, Andreas Zankl, Hugh Dawkins

المصدر: Journal of Paediatrics and Child Health. 51:381-386

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Common disease, Cousin, Precision medicine, Data science, Patient care, Workflow, Genomic technology, Pediatrics, Perinatology and Child Health, Medicine, business, Clinical phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::20acd5ee03d973f6fd3be96f5982ea11
https://doi.org/10.1111/jpc.12705

المؤلفون: Michael Brudno, Sergiu Dumitriu, Marta Girdea, Taila Hartley, Benjamin Hutton, Andriy Misyura, Orion J. Buske, Lijia Huang, Nara Sobreira, François Schiettecatte, Christopher J. Mungall

مصطلحات موضوعية: Matching (statistics), Information retrieval, Application programming interface, Genotype, Information Dissemination, Computational Biology, Biology, Web Browser, Bioinformatics, Data type, Article, Set (abstract data type), Identification (information), Workflow, Phenotype, Rare Diseases, Databases, Genetic, Genetics, Humans, Genetic Predisposition to Disease, Protocol (object-oriented programming), Genetics (clinical), Algorithms, Test data

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac747c6a4c1cac4159c3021c221dfdc
https://europepmc.org/articles/PMC4775166/

المؤلفون: Andreas Roos, Volker Straub, A. Valencia, Marta Girdea, Sergi Beltran, Steve Laurie, David Salgado, Davide Piscia, Pedro Sernadela, Rajaram Kaliyaperumal, Marco Roos, José M. Fernández, P. T'Hoen, J. Protasio, Christophe Béroud, Hanns Lochmüller, Ivo Gut, Rachel Thompson, A. Cañada, S. Lair

المصدر: Joint-Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) and the Scandinavian Neuropathological Society (SNS); 20160922-20160924; Hamburg; DOC16dgnnP29 /20160914/

مصطلحات موضوعية: Data sharing, World Wide Web, ddc: 610, Neurology, Computer science, Pediatrics, Perinatology and Child Health, Neurology (clinical), 610 Medical sciences, Medicine, Genetics (clinical), Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db356526b6b0f3c18274accf0e2aaa84
https://doi.org/10.1016/j.nmd.2016.06.272