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Lisenka Vissers
Lisenka Vissers
Professor of Translational Genomics 🧬
Geverifieerd e-mailadres voor radboudumc.nl
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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
17412012
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
13522004
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
13262014
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
9602010
Genetic studies in intellectual disability and related disorders
LELM Vissers, C Gilissen, JA Veltman
Nature Reviews Genetics 17 (1), 9-18, 2016
8642016
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
7982014
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
6882005
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
6522014
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
5512003
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
5232006
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
4832006
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
4782015
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
4642016
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
3992014
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
3782020
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), 380-384, 2014
3552014
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
3112016
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
3112011
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
T Kleefstra, JM Kramer, K Neveling, MH Willemsen, TS Koemans, ...
The American Journal of Human Genetics 91 (1), 73-82, 2012
2812012
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ...
The American Journal of Human Genetics 95 (2), 173-182, 2014
2742014
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Artikelen 1–20