| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 156 | 2020 |
| Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases FM De La Vega, S Chowdhury, B Moore, E Frise, J McCarthy, ... Genome Medicine 13, 1-19, 2021 | 73 | 2021 |
| Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy K Reinson, E Õiglane‐Shlik, I Talvik, U Vaher, A Õunapuu, M Ennok, ... American journal of medical genetics Part A 170 (8), 2173-2176, 2016 | 73 | 2016 |
| Diffuse hypomyelination is not obligate for POLR3-related disorders R La Piana, FK Cayami, LT Tran, K Guerrero, R van Spaendonk, K Õunap, ... Neurology 86 (17), 1622-1626, 2016 | 73* | 2016 |
| Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases W Liu, S Pajusalu, NJ Lake, G Zhou, N Ioannidis, P Mittal, NE Johnson, ... Genetics in Medicine 21 (11), 2512-2520, 2019 | 69 | 2019 |
| Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 68 | 2019 |
| Death after high-dose rAAV9 gene therapy in a patient with Duchenne’s muscular dystrophy A Lek, B Wong, A Keeler, M Blackwood, K Ma, S Huang, K Sylvia, ... New England Journal of Medicine 389 (13), 1203-1210, 2023 | 67* | 2023 |
| Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ... The American Journal of Human Genetics 106 (2), 234-245, 2020 | 65 | 2020 |
| Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia C Guissart, X Latypova, P Rollier, TN Khan, H Stamberger, K McWalter, ... The American Journal of Human Genetics 102 (5), 744-759, 2018 | 61 | 2018 |
| A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis JLF Fung, MHC Yu, S Huang, CCY Chung, MCY Chan, S Pajusalu, ... NPJ genomic medicine 5 (1), 37, 2020 | 60 | 2020 |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 60 | 2019 |
| A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability VM Pravata, M Gundogdu, SG Bartual, AT Ferenbach, M Stavridis, ... FEBS letters 594 (4), 717-727, 2020 | 47 | 2020 |
| Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia S Puusepp, K Reinson, S Pajusalu, Ü Murumets, E Õiglane-Shlik, R Rein, ... Molecular genetics and metabolism reports 15, 80-89, 2018 | 47 | 2018 |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 42 | 2021 |
| Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients MA Vals, A Ashikov, P Ilves, D Loorits, Q Zeng, R Barone, K Huijben, ... Journal of inherited metabolic disease 42 (3), 553-564, 2019 | 42 | 2019 |
| Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases S Pajusalu, T Kahre, H Roomere, Ü Murumets, L Roht, K Simenson, ... Clinical genetics 93 (1), 78-83, 2018 | 39 | 2018 |
| De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation MF Basilicata, AL Bruel, G Semplicio, CIK Valsecchi, T Aktaş, Y Duffourd, ... Nature genetics 50 (10), 1442-1451, 2018 | 36 | 2018 |
| The prevalence of PMM2-CDG in Estonia based on population carrier frequencies and diagnosed patients MA Vals, S Pajusalu, M Kals, R Mägi, K Õunap JIMD Reports, Volume 39, 13-17, 2018 | 35 | 2018 |
| Novel homozygous mutation in KPTN gene causing a familial intellectual disability‐macrocephaly syndrome S Pajusalu, T Reimand, K Õunap American Journal of Medical Genetics Part A 167 (8), 1913-1915, 2015 | 35 | 2015 |
| Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy J Stavusis, B Lace, J Schäfer, J Geist, I Inashkina, D Kidere, S Pajusalu, ... Annals of neurology 86 (1), 129-142, 2019 | 34 | 2019 |
