Andreas Zankl

Andreas Zankl

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Andreas Zankl

Publications by authors named "Andreas Zankl"

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Optic disc swelling in acromicric and geleophysic dysplasia.

Am J Med Genet A 2019 Sep 22;179(9):1898-1901. Epub 2019 Jun 22.

Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61268DOI Listing
September 2019

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

Am J Med Genet A 2017 Jun 19;173(6):1698-1704. Epub 2017 Apr 19.

Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38215DOI Listing
June 2017

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

J Med Genet 2016 07 11;53(7):457-64. Epub 2016 Apr 11.

Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103647DOI Listing
July 2016

Automatic concept recognition using the human phenotype ontology reference and test suite corpora.

Database (Oxford) 2015 27;2015. Epub 2015 Feb 27.

School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informatics Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK, LASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal, Genetic Services of Western Australia, King Edward Memorial Hospital, WA 6008, Australia, School of Paediatrics and Child Health, University of Western Australia, WA 6008, Australia, Institute for Immunology and Infectious Diseases, Murdoch University, WA 6150, Australia, Office of Population Health, Public Health and Clinical Services Division, Western Australian Department of Health, WA 6004, Australia, Academic Department of Medical Genetics, Sydney Children's Hospitals Network (Westmead), NSW 2145, Australia, Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, NSW 2006, Australia, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany, Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany and Berlin Brandenburg Center for Regenerative Therapies, 13353 Berlin, Germany School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informa

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http://dx.doi.org/10.1093/database/bav005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343077PMC
September 2015

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Am J Hum Genet 2015 Jul 25;97(1):111-24. Epub 2015 Jun 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507PMC
July 2015

Phenotyping: targeting genotype's rich cousin for diagnosis.

J Paediatr Child Health 2015 Apr 11;51(4):381-6. Epub 2014 Aug 11.

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.12705DOI Listing
April 2015

Capturing domain knowledge from multiple sources: the rare bone disorders use case.

J Biomed Semantics 2015 17;6:21. Epub 2015 Apr 17.

Children's Hospital, Westmead, The University of Sydney, Sydney, New South Wales Australia.

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http://dx.doi.org/10.1186/s13326-015-0008-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414390PMC
April 2015

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Hum Mol Genet 2015 Mar 24;24(5):1234-42. Epub 2014 Oct 24.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba QLD 4102, Australia, Department of Endocrinology, James Mayne Building, Royal Brisbane and Women's Hospital, Butterfield Road, Herston, QLD 4029, Australia The University of Queensland, University of Queensland Centre for Clinical Research, Herston, QLD 4029, Australia

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http://dx.doi.org/10.1093/hmg/ddu534DOI Listing
March 2015

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.

J Clin Res Pediatr Endocrinol 2014 ;6(1):40-6

Christian Medical College, Clinical Genetics Unit, Vellore, India. E-ma-il:

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http://dx.doi.org/10.4274/Jcrpe.1166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986738PMC
November 2014

Optimal management of complications associated with achondroplasia.

Appl Clin Genet 2014 24;7:117-25. Epub 2014 Jun 24.

Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.2147/TACG.S51485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104450PMC
July 2014

Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain.

J Biomed Inform 2014 Apr 10;48:73-83. Epub 2013 Dec 10.

Bone Dysplasia Research Group, UQ Centre for Clinical Research (UQCCR), The University of Queensland, Australia; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2013.12.001DOI Listing
April 2014

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain.

J Biomed Semantics 2014 Feb 5;5(1). Epub 2014 Feb 5.

School of ITEE, The University of Queensland, St, Lucia, Queensland 4072, Australia.

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http://dx.doi.org/10.1186/2041-1480-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936824PMC
February 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Rep 2013 4;2:456. Epub 2013 Dec 4.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

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http://pubmedcentralcanada.ca/pmcc/articles/PMC3909233/pdf/b
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http://www.nature.com/doifinder/10.1038/bonekey.2013.190
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http://dx.doi.org/10.1038/bonekey.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909233PMC
February 2014

Mining skeletal phenotype descriptions from scientific literature.

PLoS One 2013 8;8(2):e55656. Epub 2013 Feb 8.

School of ITEE, The University of Queensland, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0055656PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568099PMC
September 2013

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.

PLoS One 2012 30;7(11):e50614. Epub 2012 Nov 30.

School of ITEE, The University of Queensland, St. Lucia, Queensland, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511538PMC
May 2013

The effect of height, weight and head circumference on gross motor development in achondroplasia.

J Paediatr Child Health 2013 Feb 22;49(2):E122-7. Epub 2013 Jan 22.

Queensland Paediatric Rehabilitation Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1111/jpc.12078DOI Listing
February 2013

Decomposing phenotype descriptions for the human skeletal phenome.

Biomed Inform Insights 2013 4;6:1-14. Epub 2013 Feb 4.

School of ITEE, The University of Queensland, Australia.

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http://dx.doi.org/10.4137/BII.S10729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572876PMC
February 2013

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.

BMC Bioinformatics 2012 Oct 15;13:265. Epub 2012 Oct 15.

School of ITEE, The University of Queensland, Brisbane, Australia.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1471-2105-13-265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495645PMC
October 2012

Development in children with achondroplasia: a prospective clinical cohort study.

Dev Med Child Neurol 2012 Jun 12;54(6):532-7. Epub 2012 Mar 12.

Queensland Paediatric Rehabilitation Service, Royal Children's Hospital, Brisbane, Qld., Australia.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04234.xDOI Listing
June 2012

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.

J Paediatr Child Health 2012 May 23;48(5):443-9. Epub 2011 Nov 23.

School of Health and Rehabilitation Sciences School of Population Health, The University of Queensland, Brisbane, Queensland, Australia.

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http://doi.wiley.com/10.1111/j.1440-1754.2011.02255.x
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http://dx.doi.org/10.1111/j.1440-1754.2011.02255.xDOI Listing
May 2012

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

BMC Bioinformatics 2012 Mar 26;13:50. Epub 2012 Mar 26.

School of ITEE, The University of Queensland, St, Lucia, Australia.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1471-2105-13-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338382PMC
March 2012

Functional performance in young Australian children with achondroplasia.

Dev Med Child Neurol 2011 Oct 12;53(10):944-50. Epub 2011 Aug 12.

School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1111/j.1469-8749.2011.04050.xDOI Listing
October 2011

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

PLoS Genet 2011 Mar 24;7(3):e1002027. Epub 2011 Mar 24.

University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1002027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063761PMC
March 2011

Septo-optic dysplasia and associations with amyoplasia and gastroschisis.

Birth Defects Res A Clin Mol Teratol 2010 Jun;88(6):497-501

The Royal Brisbane and Women's Hospital, Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1002/bdra.20663DOI Listing
June 2010

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

Seizure 2009 Nov 19;18(9):660-3. Epub 2009 Aug 19.

Swiss Epilepsy Center Zurich, Bleulerstrasse 60, CH-8008 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.seizure.2009.07.008DOI Listing
November 2009

Specific ultrasonographic features of perinatal lethal hypophosphatasia.

Am J Med Genet A 2008 May;146A(9):1200-4

Genetic Health Queensland, Royal Children's Hospital, University of Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32202DOI Listing
May 2008

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.

J Pediatr Endocrinol Metab 2008 Mar;21(3):209-11

Department of Endocrinology and Diabetes, Royal Children's Hospital, Brisbane, Australia.

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http://dx.doi.org/10.1515/jpem.2008.21.3.209DOI Listing
March 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

Am J Med Genet A 2005 Jul;136(1):31-7

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.30767
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http://dx.doi.org/10.1002/ajmg.a.30767DOI Listing
July 2005

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

Am J Med Genet A 2004 Dec;131(3):299-300

Division of Molecular Pediatrics, CHUV, University of Lausanne, Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.30366
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http://dx.doi.org/10.1002/ajmg.a.30366DOI Listing
December 2004

Computer-aided anthropometry in the evaluation of dysmorphic children.

Authors:
Andreas Zankl

Pediatrics 2004 Sep;114(3):e333-6

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://pediatrics.aappublications.org/content/pediatrics/114
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2004-0045DOI Listing
September 2004

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Am J Med Genet A 2004 Aug;129A(2):144-8

Department of Pediatrics, Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.30222DOI Listing
August 2004

Natural history of twin disruption sequence.

Am J Med Genet A 2004 Jun;127A(2):133-8

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.20680DOI Listing
June 2004

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?

Am J Med Genet A 2004 May;127A(1):74-80

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.20646DOI Listing
May 2004

ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers.

Am J Med Genet A 2003 Aug;121A(2):146-50

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.20185DOI Listing
August 2003

Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?

Am J Med Genet A 2003 May;118A(4):358-61

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.20069
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http://dx.doi.org/10.1002/ajmg.a.20069DOI Listing
May 2003

Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient.

Am J Med Genet A 2003 Apr;118A(1):55-9

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.10233DOI Listing
April 2003

Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years.

Am J Med Genet 2002 Sep;111(4):388-91

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.10472DOI Listing
September 2002