Author details

Full Name

Andreas Zankl

Affiliation

The University of Sydney

ORCID

Career Start Year

1997

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
36628540	Australian guidelines for the management of children with achondroplasia.	J Paediatr Child Health	2023
37454964	Identification of potential non-invasive biomarkers in diastrophic dysplasia.	Bone	2023
37443051	Investigation of a family affected by early-onset osteoarthritis - proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA.	BMC Musculoskelet Disord	2023
36476632	Bruck Syndrome: Beyond the Obvious.	Fetal Diagn Ther	2022
34270699	Ontoclick: a web browser extension to facilitate biomedical knowledge curation.	Bioinformatics	2021
33632298	ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.	Genome Med	2021
33549410	Utility of genetic testing for prenatal presentations of hypophosphatasia.	Mol Genet Metab	2021
32905071	Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.	JIMD Rep	2020
31970420	An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.	J Clin Endocrinol Metab	2020
31006512	Defective DNA Polymerase Î±-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.	Am J Hum Genet	2019
31228225	Optic disc swelling in acromicric and geleophysic dysplasia.	Am J Med Genet A	2019
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
28422394	Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.	Am J Med Genet A	2017
28468665	Initiating an undiagnosed diseases program in the Western Australian public health system.	Orphanet J Rare Dis	2017
29214566	Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.	Adv Exp Med Biol	2017
27068007	Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.	J Med Genet	2016
27094867	Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.	Sci Rep	2016
24891183	COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?	Clin Genet	2015
26119816	The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.	Am J Hum Genet	2015
25926964	Capturing domain knowledge from multiple sources: the rare bone disorders use case.	J Biomed Semantics	2015
25725061	Automatic concept recognition using the human phenotype ontology reference and test suite corpora.	Database (Oxford)	2015
25492405	Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.	Clin Genet	2015
25604898	A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.	Am J Med Genet A	2015
25343988	Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.	Hum Mol Genet	2015
25109851	Phenotyping: targeting genotype's rich cousin for diagnosis.	J Paediatr Child Health	2015
23903953	Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.	Osteoporos Int	2014
25053890	Optimal management of complications associated with achondroplasia.	Appl Clin Genet	2014
24637309	Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.	J Clin Res Pediatr Endocrinol	2014
24674092	The 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 Musculoskelet Disord	2014
24333481	Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain.	J Biomed Inform	2014
24488861	Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.	Hum Mutat	2014
24499729	Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain.	J Biomed Semantics	2014
23336715	The effect of height, weight and head circumference on gross motor development in achondroplasia.	J Paediatr Child Health	2013
24501682	Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.	Bonekey Rep	2013
24140113	Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.	Am J Hum Genet	2013
24183451	Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.	Am J Hum Genet	2013
23910462	Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.	Am J Hum Genet	2013
23440304	Decomposing phenotype descriptions for the human skeletal phenome.	Biomed Inform Insights	2013
23409017	Mining skeletal phenotype descriptions from scientific literature.	PLoS One	2013
23401191	Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.	Hum Mutat	2013
21922596	Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.	Hum Mutat	2012
23226331	Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.	PLoS One	2012
23061930	Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.	BMC Bioinformatics	2012
22791362	Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.	Am J Med Genet C Semin Med Genet	2012
22876575	A report of three patients with MMP2 associated hereditary osteolysis.	Genet Couns	2012
22449239	The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.	BMC Bioinformatics	2012
22387013	Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.	Am J Hum Genet	2012
22409389	Development in children with achondroplasia: a prospective clinical cohort study.	Dev Med Child Neurol	2012
22112170	Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.	J Paediatr Child Health	2012

1 - 50 of 88

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 31

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 29

Shagun Aggarwal

Nizam's Institute of Medical Sciences

Career Start Year 2010

Number of shared co-authors 12

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 20

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 9

Tabib Dabir

Belfast City Hospital

Career Start Year 2006

Number of shared co-authors 12

Charu Deshpande

Guy's Hospital

Career Start Year 2006

Number of shared co-authors 36

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 30

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 32

Julie Hoover-Fong

Johns Hopkins University

Career Start Year 2001

Number of shared co-authors 6

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 13

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 15

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 33

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Career Start Year 1994

Number of shared co-authors 22

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 30

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 44

Peter Freisinger

Hospital Reutlingen

Career Start Year 1991

Number of shared co-authors 10

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 17

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 32

Carol L Clericuzio

University of New Mexico Health Sciences Center

Career Start Year 1986

Number of shared co-authors 28

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Career Start Year 1986

Number of shared co-authors 41

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 43

Howard M Saal

Cincinnati Children's Hospital Medical Center

Career Start Year 1985

Number of shared co-authors 9

Fiona Stewart

Belfast City Hospital

Career Start Year 1984

Number of shared co-authors 23

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 52

Andrew O M Wilkie

NIHR Oxford Biomedical Research Centre

Career Start Year 1982

Number of shared co-authors 46

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 33

Clair A Francomano

Indiana University School of Medicine

Career Start Year 1980

Number of shared co-authors 3

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 37

Kenneth Rosenbaum

Rare Disease Institute, Children's National Hospital

Career Start Year 1971

Number of shared co-authors 6

row(s) 1 - 30 of 30

Tudor Groza

Perth Children's Hospital

Co-authored papers 16

Matthew A Brown

Co-authored papers 13

Emma L Duncan

Co-authored papers 13

Sharron Townshend

King Edward Memorial Hospital

Co-authored papers 7

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 7

David Sillence

Sydney University Clinical School, Children's Hospital

Co-authored papers 7

Gareth Baynam

King Edward Memorial Hospital

Co-authored papers 7

Fiona McKenzie

King Edward Memorial Hospital

Co-authored papers 6

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 4

Hugh Dawkins

The University of Notre Dame Australia

Co-authored papers 4

Tony Roscioli

Prince of Wales Hospital

Co-authored papers 4

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 4

Stephanie Broley

King Edward Memorial Hospital

Co-authored papers 4

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 3

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 3

Marcel E Dinger

The University of Sydney

Co-authored papers 3

Cynthia L Smith

Skirball Institute for Biomolecular Medicine, New York University Medical School

Co-authored papers 3

Nicole Vasilevsky

Critical Path Institute

Co-authored papers 3

H??lya Kayserili

Istanbul University