| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 252 | 2019 |
| Digitalisation and COVID-19: the perfect storm D Horgan, J Hackett, CB Westphalen, D Kalra, E Richer, M Romao, ... Biomedicine hub 5 (3), 1-23, 2020 | 66 | 2020 |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ... Brain 143 (7), 2106-2118, 2020 | 59 | 2020 |
| Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice B Tumienė, A Maver, K Writzl, A Hodžić, G Čuturilo, R Kuzmanić‐Šamija, ... Clinical genetics 93 (5), 1057-1062, 2018 | 54 | 2018 |
| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 45 | 2021 |
| Sleep and behavioral problems in rolandic epilepsy R Samaitienė, J Norkūnienė, B Tumienė, J Grikinienė Pediatric neurology 48 (2), 115-122, 2013 | 45 | 2013 |
| European Reference Networks: challenges and opportunities B Tumiene, H Graessner, IMJ Mathijssen, AM Pereira, F Schaefer, ... Journal of Community Genetics 12, 217-229, 2021 | 44 | 2021 |
| Rare disease care pathways in the EU: from odysseys and labyrinths towards highways B Tumiene, H Graessner Journal of community genetics 12 (2), 231-239, 2021 | 42 | 2021 |
| Nutritional and immune impairments and their effects on outcomes in early pancreatic cancer patients undergoing pancreatoduodenectomy J Tumas, B Tumiene, J Jurkeviciene, E Jasiunas, A Sileikis Clinical Nutrition 39 (11), 3385-3394, 2020 | 34 | 2020 |
| The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population V Mikstiene, A Jakaitiene, J Byckova, E Gradauskiene, E Preiksaitiene, ... BMC genetics 17, 1-12, 2016 | 34 | 2016 |
| Rare disease education in Europe and beyond: time to act B Tumiene, H Peters, B Melegh, B Peterlin, A Utkus, N Fatkulina, ... Orphanet journal of rare diseases 17 (1), 441, 2022 | 30 | 2022 |
| Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome B Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, ... Journal of applied genetics 58, 467-474, 2017 | 26 | 2017 |
| Clinical and molecular characterization of a second case of 7p22. 1 microduplication E Preiksaitiene, J Kasnauskiene, Z Ciuladaite, B Tumiene, PC Patsalis, ... American Journal of Medical Genetics Part A 158 (5), 1200-1203, 2012 | 25 | 2012 |
| 2022 overview of metabolic epilepsies B Tumiene, CR Ferreira, CDM van Karnebeek Genes 13 (3), 508, 2022 | 20 | 2022 |
| Inflammatory myopathy in a patient with Aicardi-Goutières syndrome B Tumienė, N Voisin, E Preikšaitienė, D Petroška, J Grikinienė, ... European journal of medical genetics 60 (3), 154-158, 2017 | 19 | 2017 |
| Time for change? The why, what and how of promoting innovation to tackle rare diseases–is it time to update the EU’s orphan regulation? And if so, what should be changed? D Horgan, B Moss, S Boccia, M Genuardi, M Gajewski, G Capurso, ... Biomedicine hub 5 (2), 1-11, 2020 | 17* | 2020 |
| Distinct gene-set burden patterns underlie common generalized and focal epilepsies M Koko, R Krause, T Sander, DR Bobbili, M Nothnagel, P May, H Lerche, ... EBioMedicine 72, 2021 | 12 | 2021 |
| Contemporary scope of inborn errors of metabolism involving epilepsy or seizures B Tumienė, B Peterlin, A Maver, A Utkus Metabolic Brain Disease 33, 1781-1786, 2018 | 12 | 2018 |
| Rare diseases: past achievements and future prospects B Tumiene, U Kristoffersson, V Hedley, H Kääriäinen Journal of community genetics 12 (2), 205-206, 2021 | 10 | 2021 |
| Multidisciplinary care of patients with inherited metabolic diseases and epilepsy: Current perspectives B Tumienė, M del Toro Riera, J Grikiniene, R Samaitiene-Aleknienė, ... Journal of Multidisciplinary Healthcare, 553-566, 2022 | 8 | 2022 |
