| Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm ME Lindsay, D Schepers, NA Bolar, JJ Doyle, E Gallo, J Fert-Bober, ... Nature genetics 44 (8), 922-927, 2012 | 494 | 2012 |
| Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome JAN Meester, A Verstraeten, D Schepers, M Alaerts, L Van Laer, BL Loeys Annals of cardiothoracic surgery 6 (6), 582, 2017 | 307 | 2017 |
| Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm AJ Doyle, JJ Doyle, SL Bessling, S Maragh, ME Lindsay, D Schepers, ... Nature genetics 44 (11), 1249-1254, 2012 | 305 | 2012 |
| Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, ... Annals of neurology 75 (3), 382-394, 2014 | 263 | 2014 |
| Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia NA Bolar, C Golzio, M Živná, G Hayot, C Van Hemelrijk, D Schepers, ... The American Journal of Human Genetics 99 (1), 174-187, 2016 | 169 | 2016 |
| A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ... Human mutation 39 (5), 621-634, 2018 | 146 | 2018 |
| The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome D Schepers, AJ Doyle, G Oswald, E Sparks, L Myers, PJ Willems, ... European Journal of Human Genetics 23 (2), 224-228, 2015 | 68 | 2015 |
| Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease JAN Meester, A Verstraeten, M Alaerts, D Schepers, L Van Laer, BL Loeys Clinical genetics 95 (1), 85-94, 2019 | 56 | 2019 |
| Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype E Cannaerts, M Kempers, A Maugeri, C Marcelis, T Gardeitchik, J Richer, ... Journal of Medical Genetics 56 (4), 220-227, 2019 | 43 | 2019 |
| FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature E Cannaerts, A Shukla, M Hasanhodzic, M Alaerts, D Schepers, ... BMC Medical Genetics 19, 1-13, 2018 | 26 | 2018 |
| iPSC-cardiomyocyte models of Brugada syndrome—achievements, challenges and future perspectives A Nijak, J Saenen, AJ Labro, D Schepers, BL Loeys, M Alaerts International journal of molecular sciences 22 (6), 2825, 2021 | 21 | 2021 |
| A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 I Van Gucht, JAN Meester, JR Bento, M Bastiaansen, J Bastianen, ... The American Journal of Human Genetics 108 (6), 1115-1125, 2021 | 17 | 2021 |
| Clinical characterization of the first Belgian SCN5A founder mutation cohort E Sieliwonczyk, M Alaerts, T Robyns, D Schepers, C Claes, A Corveleyn, ... EP Europace 23 (6), 918-927, 2021 | 9 | 2021 |
| Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2 P Letard, D Schepers, J Albuisson, P Bruneval, E Spaggiari, ... Molecular Syndromology 9 (4), 190-196, 2018 | 8 | 2018 |
| Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes A Nijak, E Simons, B Vandendriessche, D Van de Sande, E Fransen, ... Biology Open 11 (2), bio059016, 2022 | 6 | 2022 |
| Optical mapping in hiPSC-CM and Zebrafish to resolve cardiac arrhythmias B Vandendriessche, E Sieliwonczyk, M Alaerts, BL Loeys, D Snyders, ... Hearts 1 (3), 181-199, 2020 | 4 | 2020 |
| Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping E Sieliwonczyk, B Vandendriessche, C Claes, E Mayeur, M Alaerts, ... Scientific Reports 13 (1), 1491, 2023 | 3 | 2023 |
| Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report A Nijak, AJ Labro, H De Wilde, W Dewals, S Peigneur, J Tytgat, ... Frontiers in Cardiovascular Medicine 7, 117, 2020 | 3 | 2020 |
| Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death E Simons, A Labro, J Saenen, A Nijak, E Sieliwonczyk, ... European Journal of Medical Genetics 64 (11), 104322, 2021 | 2 | 2021 |
| Inherited ventricular arrhythmia in zebrafish: Genetic models and phenotyping tools E Sieliwonczyk, VV Matchkov, B Vandendriessche, M Alaerts, J Bakkers, ... Reviews of physiology, biochemistry and pharmacology, 33-68, 2021 | 2 | 2021 |
Peter De JongheVIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute Born在 molgen.vib-ua.be 的电子邮件经过验证
