Browsing by Author Baynam, Gareth

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Issue DateTitleAuthor(s)Citation
2015Automatic concept recognition using the human phenotype ontology reference and test suite corporaZankl, Andreas; Baynam, Gareth; Collier, Nigel; Couto, Francisco; Doelken, Sandra; Groza, Tudor; Koehler, Sebastian; Oellrich, Anika; Robinson, P. N.; Smedley, Damian; Childrens Hospital Westmead: Paediatrics & Child HealthAutomatic concept recognition using the human phenotype ontology reference and test suite corpora, Database: the journal of biological databases and curation, vol.2015, N/A, 2015,pp 1-13
2011Fetal akinesia: review of the genetics of the neuromuscular causesNorth, Kathryn; Baynam, Gareth; Charles, Adrian; Laing, Nigel G.; Ravenscroft, Gianina; Sollis, Elliot; Children's Hospital Westmead: Paediatrics & Child HealthFetal akinesia: review of the genetics of the neuromuscular causes, Journal of Medical Genetics: an international peer-reviewed journal for health professionals and researchers in all areas of genetics, vol.48, 12, 2011,pp 793-801
2016The Human Phenotype Ontology in 2017Zankl, Andreas; Ayme, Segolene; Baynam, Gareth; Bello, Susan; Boerkoel, Cornelius; Engelstad, Mark; et al, Various; Foster, Erin; Kohler, Sebastian; McMurry, Julia; Vasilevsky, Nicole; Childrens Hospital Westmead: Paediatrics & Child HealthThe Human Phenotype Ontology in 2017, Nucleic Acids Research, vol.45, D1, 2016,pp D865-D867
2015The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseZankl, Andreas; Baynam, Gareth; Beck, Tim; et al, Various; Groza, Tudor; Kibbe, Warren Alden; Koehler, Sebastian; Moldenhauer, Dawid; Schofield, Paul; Schriml, Lynn Marie; Vasant, Drashtti; Vasilevsky, Nicole; Zemojtel, Tomasz; Childrens Hospital Westmead: Paediatrics & Child HealthThe Human Phenotype Ontology: Semantic Unification of Common and Rare Disease, American Journal of Human Genetics, vol.97, 1, 2015,pp 111-124
2014The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VMunns, Craig; Sillence, David; Baynam, Gareth; Broley, Stephanie; Brown, Matthew; Cavan, Barbra; et al, Various; Lazarus, Syndia; McInerney-Leo, Aideen; McKenzie, Fiona; Pruijs, Hans E.H.; Pryce, Karena; Terhal, Paulien; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V, BMC Musculoskeletal Disorders, vol.15, 1, 2014,pp 1-6
2017Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkZankl, Andreas; Baynam, Gareth; Bowman, Faye; Boycott, Kym; et al, Various; Gahl, William; Goldblatt, Jack; Kosaki, Kenjiro; Lister, Karla; Pachter, Nicholas; Walker, Caroline; Childrens Hospital Westmead: Paediatrics & Child HealthImproved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework, Advances in Experimental Medicine and Biology, vol.1031, N/A, 2017,pp 55-94
2015Phenotyping: Targeting genotype's rich cousin for diagnosisZankl, Andreas; Baynam, Gareth; Bellgard, Matthew; Brudno, Michael; Claes, Peter; Dawkins, Hugh; et al, Various; Girdea, Marta; Kung, Stefanie; LeSouef, Peter; Robinson, Peter; Walters, Mark; Childrens Hospital Westmead: Paediatrics & Child HealthPhenotyping: Targeting genotype's rich cousin for diagnosis, Journal of Paediatrics and Child Health, vol.51, 4, 2015,pp 381-386