| Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 459* | 2020 |
| MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains L Wiel, C Baakman, D Gilissen, JA Veltman, G Vriend, C Gilissen Human mutation 40 (8), 1030-1038, 2019 | 213 | 2019 |
| Spatial clustering of de novo missense mutations identifies candidate neurodevelopmental disorder-associated genes SH Lelieveld, L Wiel, H Venselaar, R Pfundt, G Vriend, JA Veltman, ... The American Journal of Human Genetics 101 (3), 478-484, 2017 | 107 | 2017 |
| Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts R van der Lee, L Wiel, TJP van Dam, MA Huynen Nucleic Acids Research 45 (18), 10634-10648, 2017 | 77 | 2017 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 42 | 2019 |
| De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial Dysmorphism IJ Diets, R van der Donk, K Baltrunaite, E Waanders, MRF Reijnders, ... The American Journal of Human Genetics 104 (4), 758-766, 2019 | 42 | 2019 |
| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction J Den Hoed, E de Boer, N Voisin, AJM Dingemans, N Guex, L Wiel, ... The American Journal of Human Genetics 108 (2), 346-356, 2021 | 40 | 2021 |
| Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics L Wiel, H Venselaar, JA Veltman, G Vriend, C Gilissen Human mutation 38 (11), 1454-1463, 2017 | 38 | 2017 |
| Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction M Wesdorp, PAM de Koning Gans, M Schraders, J Oostrik, MA Huynen, ... Human genetics 137, 389-400, 2018 | 35 | 2018 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 32 | 2023 |
| De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and … MJ Nabais Sá, H Venselaar, L Wiel, A Trimouille, E Lasseaux, S Naudion, ... Genetics in Medicine 22 (4), 797-802, 2020 | 19 | 2020 |
| De novo variants in SPOP cause two clinically distinct neurodevelopmental disorders MJN Sá, G El Tekle, APM de Brouwer, SL Sawyer, D Del Gaudio, ... The American Journal of Human Genetics 106 (3), 405-411, 2020 | 12 | 2020 |
| The mitochondrial multi-omic response to exercise training across rat tissues D Amar, NR Gay, D Jimenez-Morales, PMJ Beltran, ME Ramaker, ... Cell Metabolism, 2024 | 8 | 2024 |
| Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures VD Nair, H Pincas, GR Smith, E Zaslavsky, Y Ge, MAS Amper, M Vasoya, ... Cell Genomics, 2024 | 4 | 2024 |
| The functional impact of rare variation across the regulatory cascade T Li, N Ferraro, BJ Strober, F Aguet, S Kasela, M Arvanitis, B Ni, L Wiel, ... Cell Genomics 3 (10), 2023 | 3 | 2023 |
| De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders L Wiel, JE Hampstead, H Venselaar, LELM Vissers, HG Brunner, R Pfundt, ... The American Journal of Human Genetics 110 (1), 92-104, 2023 | 3 | 2023 |
| Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics DS Kim, L Wiel, EA Ashley Clinical Chemistry 69 (1), 6-8, 2023 | 2 | 2023 |
| Differentiating Shigella from E. coli using hierarchical feature selection on MALDI-ToF MS data L van de Wiel, TM Heskes, A Paauw, E Tsivtsivadze Thesis for Computing Science, Radboud University Nijmegen, 2014 | 1 | 2014 |
| Considerations for reporting variants in novel candidate genes identified during clinical genomic testing JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ... Genetics in Medicine, 101199, 2024 | | 2024 |
| Interpreting genomic variation using protein structures and evolutionary information LJM van de Wiel sn: sl, 2021 | | 2021 |
Christian GilissenRadboud university medical center在 radboudumc.nl 的电子邮件经过验证
