| A de novo paradigm for mental retardation LELM Vissers, J de Ligt, C Gilissen, I Janssen, M Steehouwer, P de Vries, ... Nature genetics 42 (12), 1109-1112, 2010 | 964 | 2010 |
| STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis FL van de Veerdonk, TS Plantinga, A Hoischen, SP Smeekens, ... New England Journal of Medicine 365 (1), 54-61, 2011 | 718 | 2011 |
| De novo mutations of SETBP1 cause Schinzel-Giedion syndrome A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ... Nature genetics 42 (6), 483-485, 2010 | 592 | 2010 |
| Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome C Gilissen, HH Arts, A Hoischen, L Spruijt, DA Mans, P Arts, B Van Lier, ... The American Journal of Human Genetics 87 (3), 418-423, 2010 | 341 | 2010 |
| Human TLR10 is an anti-inflammatory pattern-recognition receptor M Oosting, SC Cheng, JM Bolscher, R Vestering-Stenger, TS Plantinga, ... Proceedings of the National Academy of Sciences 111 (42), E4478-E4484, 2014 | 331 | 2014 |
| Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, ... The American Journal of Human Genetics 86 (2), 240-247, 2010 | 249 | 2010 |
| Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans SP Smeekens, A Ng, V Kumar, MD Johnson, TS Plantinga, C Van Diemen, ... Nature communications 4 (1), 1342, 2013 | 196 | 2013 |
| Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia S Vermeer, A Hoischen, RPP Meijer, C Gilissen, K Neveling, N Wieskamp, ... The American Journal of Human Genetics 87 (6), 813-819, 2010 | 157 | 2010 |
| Massively parallel sequencing of ataxia genes after array‐based enrichment A Hoischen, C Gilissen, P Arts, N Wieskamp, W van der Vliet, S Vermeer, ... Human mutation 31 (4), 494-499, 2010 | 121 | 2010 |
| RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML AL Brown, P Arts, CL Carmichael, M Babic, J Dobbins, CE Chong, ... Blood advances 4 (6), 1131-1144, 2020 | 119 | 2020 |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 118 | 2013 |
| Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies P Arts, A Simons, MS AlZahrani, E Yilmaz, E AlIdrissi, KJ Van Aerde, ... Genome Medicine 11, 1-15, 2019 | 68 | 2019 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 53 | 2022 |
| Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout V Klück, RC van Deuren, G Cavalli, A Shaukat, P Arts, MC Cleophas, ... Annals of the rheumatic diseases 79 (4), 536-544, 2020 | 52 | 2020 |
| The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution D Singhal, LYA Wee, MM Kutyna, R Chhetri, J Geoghegan, AW Schreiber, ... Leukemia 33 (12), 2842-2853, 2019 | 48 | 2019 |
| A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis M Jaeger, M Pinelli, M Borghi, C Constantini, M Dindo, L Van Emst, ... Science Translational Medicine 11 (496), eaar3558, 2019 | 41 | 2019 |
| GATA2 deficiency syndrome: a decade of discovery CC Homan, P Venugopal, P Arts, NH Shahrin, S Feurstein, L Rawlings, ... Human Mutation 42 (11), 1399-1421, 2021 | 35 | 2021 |
| The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy CC Homan, SL King-Smith, DM Lawrence, P Arts, J Feng, J Andrews, ... Haematologica 106 (11), 3004, 2021 | 33 | 2021 |
| Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder R Kumar, MA Corbett, NJC Smith, LA Jolly, C Tan, DJ Keating, ... Human molecular genetics 24 (7), 2000-2010, 2015 | 28 | 2015 |
| Integrated multi-omics for rapid rare disease diagnosis on a national scale S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ... Nature medicine 29 (7), 1681-1691, 2023 | 26 | 2023 |
Christian GilissenRadboud university medical center在 radboudumc.nl 的电子邮件经过验证
