Browsing by Author Zankl, Andreas

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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
2015Capturing domain knowledge from multiple sources: the rare bone disorders use caseZankl, Andreas; Groza, Tudor; Robinson, Peter; Tudorache, Tania; Childrens Hospital Westmead: Paediatrics & Child HealthCapturing domain knowledge from multiple sources: the rare bone disorders use case, Journal of Biomedical Semantics, vol.6, 21, 2015,pp 1-15
2015COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Zankl, Andreas; Bradbury, Linda; Brown, Matthew; Clark, Graeme; Duncan, Emma; Gardiner, Brooke; Harris, J E; Leo, Paul; McInerney-Leo, Aideen; Childrens Hospital Westmead: Paediatrics & Child HealthCOL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?, Clinical Genetics, vol.88, 1, 2015,pp 49-55
2015Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsZankl, Andreas; Brown, Matthew; Duncan, Emma; Dunwoodie, Sally; Gardiner, Brooke; Harris, Jessica; Leo, Paul; Marshall, Mhairi; McInerney-Leo, Aideen; O'Reilly, Victoria; Shi, Hongjun; Sparrow, D. B.; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects, Human Molecular Genetics, vol.24, 5, 2015,pp 1234-1242
2013Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in HumansZankl, Andreas; Bizet, Albane; Braun, Daniela A.; Davis, Erica; et al, Various; Filhol, Emilie; Halbritter, Jan; Krug, Pauline; McInerney-Leo, Aideen; Porath, Jonathan D.; Schmidts, Miriam; Yung Gee, Heon; Children's Hospital Westmead: Paediatrics & Child HealthDefects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans, American Journal of Human Genetics, vol.93, 5, 2013,pp 915-925
2012Development in children with achondroplasia: a prospective clinical cohort studySillence, David; Ault, Jenny E.; Donaghey, Samantha; Ireland, Penelope; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, Elizabeth; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthDevelopment in children with achondroplasia: a prospective clinical cohort study, Developmental Medicine and Child Neurology, vol.54, 6, 2012,pp 532`-537
2010Developmental milestones in infants and young Australasian children with achondroplasiaSillence, David; Ault, Jenny E.; Donaghey, Samantha; et al, various; Ireland, Penelope; Johnson, Leanne; Johnson, Sarah; McGill, Jim; Pacey, Verity; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthDevelopmental milestones in infants and young Australasian children with achondroplasia, Journal of Developmental and Behavioral Pediatrics, vol.31, 1,pp 41-47
2013The effect of height, weight and head circumference on gross motor development in achondroplasiaSillence, David; Ault, Jenny; Donaghey, Samantha; Ireland, Penelope; Johnston, Leanne M; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, E. M.; Townshend, Sharron; Ware, Robert; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthThe effect of height, weight and head circumference on gross motor development in achondroplasia, Journal of Paediatrics and Child Health, vol.49, 2, 2013,pp E122-E127
2014Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 SyndromeZankl, Andreas; Akin, Mustafa; Angius, Andrea; Basel-Vanagaite, Lina; Benedicenti, Francesco; Buers, Insa; Chiappe, Francesca; Chiodin, Elisabetta; et al, Various; Gianluca, Usala; La Torraca, Ilaria; Piras, roberta; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome, Human Mutation, vol.35, 4, 2014,pp 424-433
2011Functional performance in young Australian children with achondroplasiaSillence, David; Ault, Jenny E.; Ireland, Penelope Jane; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, E. M.; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthFunctional performance in young Australian children with achondroplasia, Developmental Medicine and Child Neurology, vol.53, 10, 2011,pp 944-950
2017Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumZankl, Andreas; Anderson, L; Brown, Matthew; Duncan, Emma; Leo, Paul; Marshall, M; McInerney-Leo, Aideen M; Wheeler, L; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum, American Journal of Medical Genetics, Part A, vol.173A, 6, 2017,pp 1698-1704
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
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
2012Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 yearsSillence, David; Ault, Jenny E.; Donaghey, Samantha; Ireland, Penelope Jane; Johnson, Sarah; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, Elizabeth M.; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthMedical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years, Journal of Paediatrics and Child Health, vol.48, 5, 2012,pp 443-449
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasiaZankl, Andreas; Bole-Feysot, Christine; et al, Various; Harris, Jessica; Keith, Patricia; Kenna, Tony; Le Goff, Carine; Leo, Paul; McInerney-Leo, Aideen M; Nitschke, Patrick; Steer, Ruth; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia, Journal of Medical Genetics, vol.53, 7, 2016,pp 457-464
2014Optimal management of complications associated with achondroplasiaZankl, Andreas; Edwards, Priya; Ireland, Penelope Jane; Johnston, Leanne Marie; Pacey, Verity; Savarirayan, Ravi; Childrens Hospital Westmead: Paediatrics & Child HealthOptimal management of complications associated with achondroplasia, The Application of Clinical Genetics, vol.7, N/A, 2014,pp 117-125
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