Lisenka Vissers
Lisenka Vissers
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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
10922012
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, 2004
10242004
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, 2014
7232014
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, 2010
7052010
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
6062005
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
4932003
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, 2006
4122006
Disruptive CHD8 mutations define a subtype of autism early in development
R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ...
Cell 158 (2), 263-276, 2014
3782014
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
3432006
Genetic studies in intellectual disability and related disorders
LELM Vissers, C Gilissen, JA Veltman
Nature Reviews Genetics 17 (1), 9, 2016
3152016
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, 2014
3082014
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, 2011
2022011
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
1982015
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome
DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ...
Journal of medical genetics 45 (11), 710-720, 2008
1972008
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ...
Cell 159 (1), 200-214, 2014
1882014
Identification of disease genes by whole genome CGH arrays
LELM Vissers, JA Veltman, AG van Kessel, HG Brunner
Human molecular genetics 14 (suppl_2), R215-R223, 2005
1872005
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380, 2014
1772014
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
LELM Vissers, BBA de Vries, JA Veltman
Journal of medical genetics 47 (5), 289-297, 2010
1662010
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, 2016
1652016
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581, 2012
1622012
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Artikelen 1–20