| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 71 | 2021 |
| Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease K Hopp, E Cornec-Le Gall, SR Senum, IBAW Te Paske, S Raj, S Lavu, ... Kidney international 97 (2), 370-382, 2020 | 61 | 2020 |
| Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in lynch syndrome IBAW Te Paske, AR Mensenkamp, K Neveling, S Baert-Desurmont, ... Gastroenterology 163 (6), 1691-1694. e7, 2022 | 14 | 2022 |
| Candidate gene discovery in hereditary colorectal cancer and polyposis syndromes–considerations for future studies IBAW Te Paske, MJL Ligtenberg, N Hoogerbrugge, RM de Voer International Journal of Molecular Sciences 21 (22), 8757, 2020 | 9 | 2020 |
| A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report IBAW Te Paske, J Garcia-Pelaez, AK Sommer, L Matalonga, T Starzynska, ... European Journal of Human Genetics 29 (9), 1354-1358, 2021 | 8 | 2021 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 7 | 2023 |
| HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study: Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease K Hopp, E Cornec-Le Gall, SR Senum, I Te Paske, S Raj, S Lavu, ... Kidney Int 97 (370-382), 31874800, 2020 | 7 | 2020 |
| Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer C São José, J Garcia-Pelaez, M Ferreira, O Arrieta, A André, N Martins, ... Gastric Cancer 26 (5), 653-666, 2023 | 4 | 2023 |
| Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples R Wijngaard, G Demidov, L O’Gorman, J Corominas-Galbany, B Yaldiz, ... European Journal of Human Genetics 32 (2), 200-208, 2024 | 3 | 2024 |
| Germline mutations in WNK2 could be associated with serrated polyposis syndrome YS de Lima, C Arnau-Collell, J Muñoz, C Herrera-Pariente, L Moreira, ... Journal of Medical Genetics 60 (6), 557-567, 2023 | 3 | 2023 |
| Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 A Jackson, SJ Lin, EA Jones, KE Chandler, D Orr, C Moss, Z Haider, ... Human Genetics and Genomics Advances 4 (2), 2023 | 2 | 2023 |
| Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes–a collaborative multicentre endeavour within the project Solve-RD AK Sommer, IBAW Te Paske, J Garcia-Pelaez, A Laner, E Holinski-Feder, ... European journal of medical genetics 65 (5), 104475, 2022 | 2 | 2022 |
| Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant E de Boer, B Yaldiz, AS Denommé-Pichon, L Matalonga, S Laurie, ... European Journal of Medical Genetics 65 (1), 104402, 2022 | 2 | 2022 |
| Wnt genes in colonic polyposis predisposition I Quintana, M Terradas, P Mur, IBAW Te Paske, S Peters, I Spier, ... Genes & Diseases 10 (3), 753, 2023 | 1 | 2023 |
| Germline mutations in WNK2 are associated with serrated polyposis syndrome Y Soares de Lima, C Arnau, J Munoz, C Herrera-Pariente, L Moreira, ... European Journal of Human Genetics 31, 530-531, 2023 | | 2023 |
| SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks L Matalonga, I Paramonov, W Steyaert, H Morsy, D Danis, L Johanson, ... Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, 2023 | | 2023 |
| Germline copy number variants: an underreported genetic diagnosis in gastrointestinal tumour risk syndrome suspected individuals J Garcia Pelaez, S Laurie, G Demidov, I Paramonov, AK Sommer, ... MEDICINE 101 (30), 2022 | | 2022 |
