Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 525 | 2017 |
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 | 418 | 2012 |
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 | 175 | 2017 |
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 | 174 | 2013 |
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 | 161 | 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 | 149 | 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 | 142 | 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 | 136 | 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 | 132 | 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 | 130 | 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 |
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying … A Lindstrand, J Eisfeldt, M Pettersson, CMB Carvalho, M Kvarnung, ... Genome medicine 11, 1-23, 2019 | 115 | 2019 |
Zebrafish models of neurodevelopmental disorders: limitations and benefits of current tools and techniques R Vaz, W Hofmeister, A Lindstrand International journal of molecular sciences 20 (6), 1296, 2019 | 113 | 2019 |
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome A Lindstrand, EE Davis, CMB Carvalho, D Pehlivan, JR Willer, IC Tsai, ... The American Journal of Human Genetics 94 (5), 745-754, 2014 | 101 | 2014 |
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data J Eisfeldt, F Vezzi, P Olason, D Nilsson, A Lindstrand F1000Research 6, 2017 | 98 | 2017 |
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia G Grigelioniene, HI Suzuki, F Taylan, F Mirzamohammadi, ... Nature medicine 25 (4), 583-590, 2019 | 86 | 2019 |
Low copy number of the AMY1 locus is associated with early-onset female obesity in Finland H Viljakainen, JC Andersson-Assarsson, M Armenio, M Pekkinen, ... PloS one 10 (7), e0131883, 2015 | 81 | 2015 |
Molecular and clinical characterization of patients with overlapping 10p deletions A Lindstrand, H Malmgren, A Verri, E Benetti, M Eriksson, A Nordgren, ... American journal of medical genetics Part A 152 (5), 1233-1243, 2010 | 69 | 2010 |
Whole‐genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance of … D Nilsson, M Pettersson, P Gustavsson, A Förster, W Hofmeister, ... Human mutation 38 (2), 180-192, 2017 | 67 | 2017 |