| 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 | 1761 | 2012 |
| Mutations in a new member of the chromodomain gene family cause CHARGE syndrome LELM Vissers, CMA van Ravenswaaij, R Admiraal, JA Hurst, ... Nature genetics 36 (9), 955-957, 2004 | 1361 | 2004 |
| 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 | 1340 | 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 | 966 | 2010 |
| De novo mutations in human genetic disease JA Veltman, HG Brunner Nature Reviews Genetics 13 (8), 565-575, 2012 | 924 | 2012 |
| Genetic studies in intellectual disability and related disorders LELM Vissers, C Gilissen, JA Veltman Nature Reviews Genetics 17 (1), 9-18, 2016 | 875 | 2016 |
| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 838 | 2008 |
| 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 | 726 | 2011 |
| Identification of common variants associated with human hippocampal and intracranial volumes JL Stein, SE Medland, AA Vasquez, DP Hibar, RE Senstad, AM Winkler, ... Nature genetics 44 (5), 552-561, 2012 | 704 | 2012 |
| Diagnostic genome profiling in mental retardation BBA De Vries, R Pfundt, M Leisink, DA Koolen, LELM Vissers, IM Janssen, ... The American Journal of Human Genetics 77 (4), 606-616, 2005 | 688 | 2005 |
| 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 | 613 | 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 | 590 | 2010 |
| Disruption of the neurexin 1 gene is associated with schizophrenia D Rujescu, A Ingason, S Cichon, OPH Pietiläinen, MR Barnes, ... Human molecular genetics 18 (5), 988-996, 2009 | 584 | 2009 |
| Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities LELM Vissers, BBA de Vries, K Osoegawa, IM Janssen, T Feuth, CO Choy, ... The American Journal of Human Genetics 73 (6), 1261-1270, 2003 | 552 | 2003 |
| A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ... Nature genetics 38 (9), 999-1001, 2006 | 525 | 2006 |
| 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 | 490 | 2015 |
| CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene MCJ Jongmans, RJ Admiraal, KP Van Der Donk, L Vissers, AF Baas, ... Journal of medical genetics 43 (4), 306-314, 2006 | 488 | 2006 |
| 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 | 475 | 2016 |
| 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 | 463 | 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 | 408 | 2011 |
Christian GilissenRadboud university medical center在 radboudumc.nl 的电子邮件经过验证
