HGVS recommendations for the description of sequence variants: 2016 update JT Den Dunnen, R Dalgleish, DR Maglott, RK Hart, MS Greenblatt, ... Human mutation 37 (6), 564-569, 2016 | 1483 | 2016 |
From problem-based learning to practice-based education: A framework for shaping future engineers L Mann, R Chang, S Chandrasekaran, A Coddington, S Daniel, E Cook, ... European Journal of Engineering Education 46 (1), 27-47, 2021 | 143 | 2021 |
The human variome project RGH Cotton, AD Auerbach, M Axton, CI Barash, SF Berkovic, AJ Brookes, ... Science 322 (5903), 861-862, 2008 | 92 | 2008 |
Planning the human variome project: the Spain report J Kaput, RGH Cotton, L Hardman, M Watson, AI Al Aqeel, JY Al‐Aama, ... Human mutation 30 (4), 496-510, 2009 | 66 | 2009 |
General mutation databases: analysis and review RA George, TD Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, ... Journal of medical genetics 45 (2), 65-70, 2008 | 48 | 2008 |
Diabetes and auditory-vestibular pathology S Elangovan, C Spankovich Seminars in hearing 40 (04), 292-299, 2019 | 27 | 2019 |
A1ATVar: a relational database of human SERPINA1 gene variants leading to α1‐antitrypsin deficiency and application of the VariVis software S Zaimidou, S van Baal, TD Smith, K Mitropoulos, M Ljujic, D Radojkovic, ... Human mutation 30 (3), 308-313, 2009 | 24 | 2009 |
Evaluation and management of patients with diabetes and hearing loss C Spankovich, K Yerraguntla Seminars in hearing 40 (04), 308-314, 2019 | 18 | 2019 |
Standard development at the Human Variome Project TD Smith, M Vihinen Database 2015, bav024, 2015 | 17 | 2015 |
Initiating a human variome project country node J AlAama, TD Smith, A Lo, H Howard, AA Kline, M Lange, J Kaput, ... Human mutation 32 (5), 501-506, 2011 | 17 | 2011 |
Human variome project country nodes: Documenting genetic information within a country GP Patrinos, TD Smith, H Howard, F Al‐Mulla, L Chouchane, ... Human Mutation, 2012 | 16 | 2012 |
VariVis: a visualisation toolkit for variation databases TD Smith, RGH Cotton BMC bioinformatics 9, 1-5, 2008 | 9 | 2008 |
Beyond the genomics blueprint: the 4th human variome project meeting, UNESCO, Paris, 2012 MRJ Kohonen-Corish, TD Smith, HM Robinson GENETICS in MEdICINE 15 (7), 507-512, 2013 | 7 | 2013 |
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience MMNHVP Nik Norliza Nik Hassan, John-Paul Plazzer, Timothy D. Smith, Hashim ... BMC Research Notes 9 (125), 2016 | 4 | 2016 |
Quality standards for DNA sequence variation databases to improve clinical management under development in Australia B Bennetts, M Caramins, A Hsu, C Lau, S Mead, C Meldrum, TD Smith, ... Applied & translational genomics 3 (3), 54-57, 2014 | 4 | 2014 |
The human variome project beijing meeting TD Smith, HM Robinson, RGH Cotton Journal of Medical Genetics 49 (4), 284-289, 2012 | 3 | 2012 |
Response to Stenson et al on the review of general mutation databases RA George, TD Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, ... Journal of medical genetics 45 (5), 319-320, 2008 | 3 | 2008 |
Grounded by values: An emergent engineering practice A Coddington, L Mann, S Chandrasekaran, E Cook, E Crossin, S Daniel, ... Proceedings of the 28th Annual Conference of the Australasian Association …, 2017 | 2 | 2017 |
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution EA Webb, TD Smith, RGH Cotton Human Genomics 5 (3), 141, 2011 | 2 | 2011 |
Finding the sweet spot-the key to enduring industry relationships J Turner, TDD Smith, E Crossin Australasian Association for Engineering Education Conference (29th: 2018 …, 2018 | | 2018 |