| Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ... The American Journal of Human Genetics 99 (4), 860-876, 2016 | 135 | 2016 |
| 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 | 77 | 2016 |
| 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 | 71 | 2019 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 59 | 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 | 50 | 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 | 49 | 2021 |
| A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016 M Yakoreva, T Kahre, R Žordania, K Reinson, R Teek, V Tillmann, A Peet, ... European Journal of Human Genetics 27 (11), 1649-1658, 2019 | 33 | 2019 |
| High incidence of low vitamin B12 levels in Estonian newborns K Reinson, K Künnapas, A Kriisa, MA Vals, K Muru, K Õunap Molecular Genetics and Metabolism Reports 15, 1-5, 2018 | 32 | 2018 |
| Early feeding practices in infants with phenylketonuria across Europe A Pinto, S Adams, K Ahring, H Allen, MF Almeida, D Garcia-Arenas, ... Molecular genetics and metabolism reports 16, 82-89, 2018 | 28 | 2018 |
| Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11 K Reinson, R Kovacs-Nagy, E Õiglane-Shlik, S Pajusalu, M Nõukas, ... European Journal of Medical Genetics 62 (11), 103572, 2019 | 27 | 2019 |
| Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia NE Mencacci, MM Brockmann, J Dai, S Pajusalu, B Atasu, J Campos, ... The Journal of Clinical Investigation 131 (7), 2021 | 25 | 2021 |
| Regulatory landscape of providing information on newborn screening to parents across Europe V Franková, RO Driscoll, ME Jansen, JG Loeber, V Kožich, J Bonham, ... European Journal of Human Genetics 29 (1), 67-78, 2021 | 20 | 2021 |
| FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening K Muru, K Reinson, K Künnapas, H Lilleväli, Z Nochi, S Mosegaard, ... Molecular Genetics & Genomic Medicine 7 (9), e915, 2019 | 20 | 2019 |
| Weaning practices in phenylketonuria vary between health professionals in Europe A Pinto, S Adams, K Ahring, H Allen, MF Almeida, D Garcia-Arenas, ... Molecular genetics and metabolism reports 18, 39-44, 2019 | 18 | 2019 |
| Undiagnosed phenylketonuria can exist everywhere: Results from an international survey AMJ van Wegberg, F Trefz, M Gizewska, S Ahmed, L Chabraoui, MS Zaki, ... The Journal of Pediatrics 239, 231-234. e2, 2021 | 13 | 2021 |
| Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene S Puusepp, K Reinson, S Pajusalu, ABP van Kuilenburg, D Dobritzsch, ... Molecular Genetics and Metabolism Reports 25, 100677, 2020 | 13 | 2020 |
| New diagnostic methods for early detection of inborn errors of metabolism in Estonia K Reinson, Universitas Tartuensis DSpace Tartu: University of Tartu, 2018 | 12 | 2018 |
| Alternative polyadenylation alters protein dosage by switching between intronic and 3′ UTR sites N de Prisco, C Ford, ND Elrod, W Lee, LC Tang, KL Huang, A Lin, P Ji, ... Science advances 9 (7), eade4814, 2023 | 11 | 2023 |
| The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records H Lilleväli, K Reinson, K Muru, S Saarsalu, K Künnapas, T Kahre, ... Molecular Genetics and Metabolism Reports 19, 100467, 2019 | 10 | 2019 |
| Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening H Lilleväli, K Reinson, K Muru, K Simenson, Ü Murumets, T Möls, ... JIMD Reports, Volume 40, 39-45, 2018 | 9 | 2018 |
Katrin OunapUniversity of Tartu, Institute of Clinical Medicine在 broadinstitute.org 的电子邮件经过验证
