Mining skeletal phenotype descriptions from scientific literature.

by Tudor Groza, Jane Hunter, Andreas Zankl
Published 2013-01-01

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

by Razan Paul, Tudor Groza, Jane Hunter, Andreas Zankl
Published 2012-01-01

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

by Leticia A. Deveza, Andreas Zankl, David J. Hunter
Published 2023-07-01

Impeccable Keccak

by Ivan Gavrilan, Felix Oberhansl, Alexander Wagner, Emanuele Strieder, Andreas Zankl
Published 2024-03-01

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

by Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller
Published 2020-09-01

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

by Evgeny A Glazov, Andreas Zankl, Marina Donskoi, Tony J Kenna, Gethin P Thomas, Graeme R Clark, Emma L Duncan, Matthew A Brown
Published 2011-03-01

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

by Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond
Published 2005-10-01

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

by Andre E. Minoche, Ben Lundie, Greg B. Peters, Thomas Ohnesorg, Mark Pinese, David M. Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld, Leslie Burnett, Marcel E. Dinger, Mark J. Cowley
Published 2021-02-01

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G. dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E. Kraenzlin, Jacques S. Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano
Published 2008-01-01

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.

by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G Dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E Kraenzlin, Jacques S Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano
Published 2008-01-01

Initiating an undiagnosed diseases program in the Western Australian public health system

by Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Published 2017-05-01

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

by Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys
Published 2024-03-01