The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Groza, Tudor, Köhler, Sebastian, Moldenhauer, Dawid, Vasilevsky, Nicole, Baynam, Gareth, Zemojtel, Tomasz, Schriml, Lynn Marie, Kibbe, Warren Alden, Schofield, Paul N., Beck, Tim, Vasant, Drashtti, Brookes, Anthony J., Zankl, Andreas, Washington, Nicole L., Mungall, Christopher J., Lewis, Suzanna E., Haendel, Melissa A., Parkinson, Helen, Robinson, Peter N.
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Journal Article
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
Deveza, Leticia A, Zankl, Andreas, Hunter, David J
Published in BMC musculoskeletal disorders (13.07.2023)
Published in BMC musculoskeletal disorders (13.07.2023)
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Journal Article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Minoche, Andre E, Lundie, Ben, Peters, Greg B, Ohnesorg, Thomas, Pinese, Mark, Thomas, David M, Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E, Cowley, Mark J
Published in Genome medicine (25.02.2021)
Published in Genome medicine (25.02.2021)
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Journal Article
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways
Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, Idaira, Yayoi, Asada, Yoshinobu, Kitamura, Hiroshi, Yamasaki, Satoru, Hojyo, Shintaro, Nakayama, Manabu, Ohara, Osamu, Koseki, Haruhiko, Dos Santos, Heloisa G, Bonafe, Luisa, Ha-Vinh, Russia, Zankl, Andreas, Unger, Sheila, Kraenzlin, Marius E, Beckmann, Jacques S, Saito, Ichiro, Rivolta, Carlo, Ikegawa, Shiro, Superti-Furga, Andrea, Hirano, Toshio
Published in PloS one (05.11.2008)
Published in PloS one (05.11.2008)
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Journal Article
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia
Tofts, Louise, Ireland, Penny, Tate, Tracy, Raj, Supriya, Carroll, Theresa, Munns, Craig F, Knipe, Stephen, Langdon, Katherine, McGregor, Lesley, McKenzie, Fiona, Zankl, Andreas, Savarirayan, Ravi
Published in Children (Basel) (01.07.2024)
Published in Children (Basel) (01.07.2024)
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Journal Article
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
Glazov, Evgeny A, Zankl, Andreas, Donskoi, Marina, Kenna, Tony J, Thomas, Gethin P, Clark, Graeme R, Duncan, Emma L, Brown, Matthew A
Published in PLoS genetics (01.03.2011)
Published in PLoS genetics (01.03.2011)
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Journal Article
Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain
Paul, Razan, Groza, Tudor, Hunter, Jane, Zankl, Andreas
Published in Journal of biomedical semantics (05.02.2014)
Published in Journal of biomedical semantics (05.02.2014)
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Journal Article
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Meester, Josephina A. N., Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L. S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.
Published in Npj genomic medicine (26.03.2024)
Published in Npj genomic medicine (26.03.2024)
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Journal Article
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Ha-Vinh, Russia, Alanay, Yasemin, Bank, Ruud A., Campos-Xavier, Ana Belinda, Zankl, Andreas, Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part A (01.12.2004)
Published in American journal of medical genetics. Part A (01.12.2004)
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Journal Article
Specific ultrasonographic features of perinatal lethal hypophosphatasia
Zankl, Andreas, Mornet, Etienne, Wong, Shell
Published in American journal of medical genetics. Part A (01.05.2008)
Published in American journal of medical genetics. Part A (01.05.2008)
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Journal Article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, McKinlay Gardner, R J, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi
Published in Orphanet journal of rare diseases (09.06.2011)
Published in Orphanet journal of rare diseases (09.06.2011)
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Journal Article
Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome
Zankl, Andreas, Pachman, Lauren, Poznanski, Andrew, Bonafé, Luisa, Wang, Fengqiang, Shusterman, Yelena, Fishman, David A, Superti‐Furga, Andrea
Published in Journal of bone and mineral research (01.02.2007)
Published in Journal of bone and mineral research (01.02.2007)
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Journal Article
Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years
Ireland, Penelope J, Johnson, Sarah, Donaghey, Samantha, Johnston, Leanne, Ware, Robert S, Zankl, Andreas, Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron, McGill, James
Published in Journal of paediatrics and child health (01.05.2012)
Published in Journal of paediatrics and child health (01.05.2012)
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Journal Article