| 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 | 1781 | 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 | 1353 | 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 | 972 | 2010 |
| 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 | 755 | 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 | 723 | 2011 |
| Refining analyses of copy number variation identifies specific genes associated with developmental delay BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ... Nature genetics 46 (10), 1063-1071, 2014 | 660 | 2014 |
| 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 | 612 | 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 | 596 | 2010 |
| New insights into the generation and role of de novo mutations in health and disease R Acuna-Hidalgo, JA Veltman, A Hoischen Genome biology 17, 1-19, 2016 | 472 | 2016 |
| 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 | 413 | 2011 |
| Long-read sequencing emerging in medical genetics T Mantere, S Kersten, A Hoischen Frontiers in genetics 10, 432668, 2019 | 401 | 2019 |
| 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 | 398 | 2015 |
| Unlocking Mendelian disease using exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman Genome biology 12 (9), 228, 2011 | 362 | 2011 |
| 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 | 342 | 2010 |
| 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 | 336 | 2012 |
| 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 | 333 | 2014 |
| Parent-of-origin-specific signatures of de novo mutations JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ... Nature genetics 48 (8), 935-939, 2016 | 318 | 2016 |
| De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome A Hoischen, BWM Van Bon, B Rodríguez-Santiago, C Gilissen, ... Nature genetics 43 (8), 729-731, 2011 | 312 | 2011 |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 309 | 2012 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 280 | 2015 |
Christian GilissenRadboud university medical center在 radboudumc.nl 的电子邮件经过验证
