Christian Gilissen
Christian Gilissen
Radboud university medical center
Adresse e-mail validée de radboudumc.nl - Page d'accueil
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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
12322012
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
8392014
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
7802010
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
5192011
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, 2010
5022010
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
4672012
Genetic studies in intellectual disability and related disorders
LELM Vissers, C Gilissen, JA Veltman
Nature Reviews Genetics 17 (1), 9-18, 2016
4192016
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
3282011
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
2992010
Unlocking Mendelian disease using exome sequencing
C Gilissen, A Hoischen, HG Brunner, JA Veltman
Genome biology 12 (9), 228, 2011
2982011
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
2762015
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
2732012
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
2722012
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
2712013
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
2302016
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
2282014
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, 2015
2262015
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
2242011
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
2142010
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, 2012
2112012
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