| Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene N Tõnisson, J Zernant, A Kurg, H Pavel, G Slavin, H Roomere, A Meiel, ... Proceedings of the National Academy of Sciences 99 (8), 5503-5508, 2002 | 131 | 2002 |
| 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 |
| Locations of several novel 2'-O-methylated nucleotides in human 28S rRNA A Rebane, H Roomere, A Metspalu BMC molecular biology 3, 1-5, 2002 | 33 | 2002 |
| Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene LN Clark, E Haamer, H Mejia‐Santana, J Harris, S Lesage, A Durr, SJ Bs, ... Movement disorders 22 (7), 932-937, 2007 | 21 | 2007 |
| ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia C Shammas, T Papasavva, X Felekis, C Christophorou, H Roomere, ... Clinical chemistry and laboratory medicine 48 (12), 1713-1718, 2010 | 13 | 2010 |
| Cumulative small effect genetic markers and the risk of colorectal cancer in Poland, Estonia, Lithuania, and Latvia P Serrano-Fernandez, D Dymerska, G Kurzawski, R Derkacz, ... Gastroenterology Research and Practice 2015, 2015 | 6 | 2015 |
| Lynch syndrome mutations shared by the Baltic States and Poland D Dymerska, G Kurzawski, J Suchy, H Roomere, K Toome, A Metspalu, ... Clinical genetics 86 (2), 190-193, 2014 | 5 | 2014 |
| Perekondlik adenomatoosne polüpoos: ülevaade ja ühe perekonna haigusjuht P Laidre, J Soplepmann, O Uibo, K Raime, M Yakoreva, G Mirka, ... Eesti Arst, 2015 | 2 | 2015 |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021 L Roht, M Tooming, K Rekker, H Roomere, K Toome, Ü Murumets, ... Frontiers in Genetics 13, 1020543, 2022 | 1 | 2022 |
| Päriliku jämesoolevähiga patsientide geneetilise konsulteerimise ja jälgimise juhend V Mikita, K Joost, P Laidre, K Toome, N Tõnisson, J Soplepmann, ... Eesti Arst, 2012 | 1 | 2012 |
| The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population L Roht, P Laidre, M Tooming, N Tõnisson, M Nõukas, M Nurm, ... Cancers 15 (14), 3663, 2023 | | 2023 |
| Large gene panel sequencing in clinical setting experience from 3044 patients H Roomere, U Murumets, S Pajusalu, U Samarina, T Kahre EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 457-458, 2022 | | 2022 |
| Overview of molecular diagnostic testing of spinocerebellar ataxias in Estonia T Kahre, U Murumets, H Roomere, S Sarv, K Gross-Paju, K Ounap, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1465-1465, 2019 | | 2019 |
| Copy number variant detection increases diagnostic yield of Mendeliome sequencing S Pajusalu, H Roomere, T Kahre, Ü Murumets, V Pata, K Õunap EUROPEAN JOURNAL OF HUMAN GENETICS 27, 505-505, 2019 | | 2019 |
| Molecular Diagnostics of Hereditary Hearing Loss using Next-generation sequencing (NGS) in Estonian patients R Teek, H Roomere, S Pajusalu, K Ounap EUROPEAN JOURNAL OF HUMAN GENETICS 27, 52-52, 2019 | | 2019 |
| Mendeliome sequencing as a prenatal diagnostic investigation after detecting fetal anomalies during ultrasound screening K Muru, S Pajusalu, K Ridnõi, H Roomere, R Žordania, E Kurvinen, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 131-131, 2018 | | 2018 |
| Monitoring cancer related mutations in cell-free DNA of lung cancer patients M Tamm, K Oselin, P Kivistik, M Kals, K Lokk, K Keerma, M Saare, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 547-547, 2018 | | 2018 |
| Detecting Cancer Related Mutations in Cell-Free DNA of Lung Cancer Patients M Tamm, K Oselin, PA Kivistik, M Kals, K Keerma, R Roosipuu, ... HUMAN HEREDITY 81 (4), 227-227, 2016 | | 2016 |
| Analysis of Autosomal Dominant and X-Linked Retinitis Pigmentosa Patients on the ADRP and XlRP Genotyping Microarrays (Disease Chips) R Allikmets, J Zernant, H Roomere, I Lopez, C Ayuso, S Banfi, ... Investigative Ophthalmology & Visual Science 48 (13), 2335-2335, 2007 | | 2007 |
| Detection of β-thalassemia mutations by Arrayed Primer Extension (APEX) Technology C Perra, F Anni, H Roomere, R Galanello, G Romeo VIII Congresso Nazionale SIGU 2005, 2005 | | 2005 |
