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| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ... Cell 150 (3), 533-548, 2012 | 413 | 2012 |
| ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry R Hjeij, A Lindstrand, R Francis, MA Zariwala, X Liu, Y Li, R Damerla, ... The American Journal of Human Genetics 93 (2), 357-367, 2013 | 173 | 2013 |
| Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ... Nature neuroscience 20 (8), 1043-1051, 2017 | 171 | 2017 |
| Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ... Journal of Medical Genetics 47 (5), 299-311, 2010 | 170 | 2010 |
| Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients H Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ... Genome Medicine 13, 1-15, 2021 | 151 | 2021 |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 141 | 2020 |
| Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome A Lindstrand, S Frangakis, CMB Carvalho, EB Richardson, KA McFadden, ... The American Journal of Human Genetics 99 (2), 318-336, 2016 | 140 | 2016 |
| A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT M Kvarnung, D Nilsson, A Lindstrand, GC Korenke, SCC Chiang, ... Journal of medical genetics 50 (8), 521-528, 2013 | 135 | 2013 |
| Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ... Biological psychiatry 85 (4), 287-297, 2019 | 129 | 2019 |
| Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features E Tham, A Lindstrand, A Santani, H Malmgren, A Nesbitt, HA Dubbs, ... The American Journal of Human Genetics 96 (3), 507-513, 2015 | 127 | 2015 |
| Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement I Kapferer-Seebacher, M Pepin, R Werner, TJ Aitman, A Nordgren, ... The American Journal of Human Genetics 99 (5), 1005-1014, 2016 | 121 | 2016 |
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