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Christian Gilissen
Christian Gilissen
Radboud university medical center
Verified email at radboudumc.nl - Homepage
Title
Cited by
Cited by
Year
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
17302012
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
13182014
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
9562010
Genetic studies in intellectual disability and related disorders
LELM Vissers, C Gilissen, JA Veltman
Nature Reviews Genetics 17 (1), 9-18, 2016
8592016
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
7222020
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
7152011
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
6032012
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
5832010
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
4742015
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
4612016
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
4062011
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
3942013
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
3912015
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
3852012
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
3702020
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
3622014
Unlocking Mendelian disease using exome sequencing
C Gilissen, A Hoischen, HG Brunner, JA Veltman
Genome biology 12 (9), 228, 2011
3562011
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
3392010
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
3282015
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
3272012
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