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| Genotype–phenotype databases: challenges and solutions for the post-genomic era GA Thorisson, J Muilu, AJ Brookes Nature Reviews Genetics 10 (1), 9-18, 2009 | 123 | 2009 |
| A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease GA Arnadottir, GL Norddahl, S Gudmundsdottir, AB Agustsdottir, ... Nature Communications 9 (1), 4447, 2018 | 106 | 2018 |
| The role of a Bioresource Research Impact Factor as an incentive to share human bioresources A Cambon-Thomsen, GA Thorisson, S Andrieu, G Bertier, M Boeckhout, ... Nature genetics 43 (6), 503-504, 2011 | 96 | 2011 |
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| Quantifying the use of bioresources for promoting their sharing in scientific research L Mabile, R Dalgleish, GA Thorisson, M Deschênes, R Hewitt, J Carpenter, ... GigaScience 2 (1), 7, 2013 | 56 | 2013 |
| COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA BO Jensson, S Hansdottir, GA Arnadottir, G Sulem, RP Kristjansson, ... BMC medical genetics 18, 1-5, 2017 | 53 | 2017 |
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| Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters GA Arnadottir, BO Jensson, SE Marelsson, G Sulem, A Oddsson, ... BMC medical genetics 18, 1-5, 2017 | 32 | 2017 |
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