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Timothy D. Smith
Timothy D. Smith
Verified email at rmit.edu.au
Title
Cited by
Cited by
Year
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
14412016
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
1362021
The human variome project
RGH Cotton, AD Auerbach, M Axton, CI Barash, SF Berkovic, AJ Brookes, ...
Science 322 (5903), 861-862, 2008
922008
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
652009
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
472008
Diabetes and auditory-vestibular pathology
S Elangovan, C Spankovich
Seminars in hearing 40 (04), 292-299, 2019
262019
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
232009
Evaluation and management of patients with diabetes and hearing loss
C Spankovich, K Yerraguntla
Seminars in hearing 40 (04), 308-314, 2019
172019
Standard development at the Human Variome Project
TD Smith, M Vihinen
Database 2015, bav024, 2015
172015
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
172011
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
162012
VariVis: a visualisation toolkit for variation databases
TD Smith, RGH Cotton
BMC bioinformatics 9, 1-5, 2008
92008
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
72013
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
42016
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
42014
The human variome project beijing meeting
TD Smith, HM Robinson, RGH Cotton
Journal of Medical Genetics 49 (4), 284-289, 2012
32012
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
32008
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
22017
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
12011
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
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