| Diagnostic exome sequencing in persons with severe intellectual disability J De Ligt, MH Willemsen, BWM Van Bon, T Kleefstra, HG Yntema, T Kroes, ... New England Journal of Medicine 367 (20), 1921-1929, 2012 | 1838 | 2012 |
| Genome sequencing identifies major causes of severe intellectual disability C Gilissen, JY Hehir-Kwa, DT Thung, M Van De Vorst, BWM Van Bon, ... Nature 511 (7509), 344-347, 2014 | 1406 | 2014 |
| 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 | 988 | 2010 |
| Genetic studies in intellectual disability and related disorders LELM Vissers, C Gilissen, JA Veltman Nature Reviews Genetics 17 (1), 9-18, 2016 | 937 | 2016 |
| Presence of genetic variants among young men with severe COVID-19 CI Van Der Made, A Simons, J Schuurs-Hoeijmakers, G van den Heuvel, ... Jama 324 (7), 663-673, 2020 | 796 | 2020 |
| 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 | 747 | 2011 |
| Disease gene identification strategies for exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman European Journal of Human Genetics 20 (5), 490-497, 2012 | 634 | 2012 |
| 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 | 616 | 2010 |
| A recent bottleneck of Y chromosome diversity coincides with a global change in culture M Karmin, L Saag, M Vicente, MAW Sayres, M Järve, UG Talas, S Rootsi, ... Genome research 25 (4), 459-466, 2015 | 523 | 2015 |
| Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability SH Lelieveld, MRF Reijnders, R Pfundt, HG Yntema, EJ Kamsteeg, ... Nature neuroscience 19 (9), 1194-1196, 2016 | 511 | 2016 |
| 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 | 501 | 2020 |
| Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ... The American Journal of Human Genetics 88 (3), 362-371, 2011 | 427 | 2011 |
| A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ... Human mutation 34 (12), 1721-1726, 2013 | 417 | 2013 |
| Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380, 2012 | 412 | 2012 |
| A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer RDA Weren, MJL Ligtenberg, CM Kets, RM De Voer, ETP Verwiel, ... Nature genetics 47 (6), 668-671, 2015 | 410 | 2015 |
| Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research 24 (2), 340-348, 2014 | 395 | 2014 |
| Unlocking Mendelian disease using exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman Genome biology 12 (9), 228, 2011 | 366 | 2011 |
| Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease C Pottier, KF Bieniek, NC Finch, M van de Vorst, M Baker, R Perkersen, ... Acta neuropathologica 130, 77-92, 2015 | 352 | 2015 |
| Next‐generation genetic testing for retinitis pigmentosa K Neveling, RWJ Collin, C Gilissen, RAC Van Huet, L Visser, MP Kwint, ... Human mutation 33 (6), 963-972, 2012 | 347 | 2012 |
| 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 | 347 | 2010 |