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Annette Schenck
Annette Schenck
Prof. Translational Genomics of Neurodevelopmental Disorders
Verified email at radboudumc.nl - Homepage
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Cited by
Cited by
Year
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
13352014
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ...
The Lancet 380 (9854), 1674-1682, 2012
12222012
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
5182017
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P
A Schenck, B Bardoni, A Moro, C Bagni, JL Mandel
Proceedings of the National Academy of Sciences 98 (15), 8844-8849, 2001
4222001
The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development
A Schenck, L Goto-Silva, C Collinet, M Rhinn, A Giner, B Habermann, ...
Cell 133 (3), 486-497, 2008
3922008
Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology
Y Kim, JY Sung, I Ceglia, KW Lee, JH Ahn, JM Halford, AM Kim, SP Kwak, ...
Nature 442 (7104), 814-817, 2006
3812006
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
C Zweier, EK de Jong, M Zweier, A Orrico, LB Ousager, AL Collins, ...
The American Journal of Human Genetics 85 (5), 655-666, 2009
3722009
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein
A Schenck, B Bardoni, C Langmann, N Harden, JL Mandel, A Giangrande
Neuron 38 (6), 887-898, 2003
3672003
Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner
VK Gupta, L Scheunemann, T Eisenberg, S Mertel, A Bhukel, ...
Nature neuroscience 16 (10), 1453-1460, 2013
3522013
Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules
K Kochinke, C Zweier, B Nijhof, M Fenckova, P Cizek, F Honti, ...
The American Journal of Human Genetics 98 (1), 149-164, 2016
3202016
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
2822012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
DA Koolen, JM Kramer, K Neveling, WM Nillesen, HL Moore-Barton, ...
Nature genetics 44 (6), 639-641, 2012
2482012
Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a
JM Kramer, K Kochinke, MAW Oortveld, H Marks, D Kramer, EK de Jong, ...
PLoS biology 9 (1), e1000569, 2011
2362011
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts
M Castets, C Schaeffer, E Bechara, A Schenck, EW Khandjian, S Luche, ...
Human Molecular Genetics 14 (6), 835-844, 2005
2002005
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1762012
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ...
Human molecular genetics 22 (10), 1960-1970, 2013
1742013
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein
B Bardoni, A Schenck, J Louis Mandel
Human molecular genetics 8 (13), 2557-2566, 1999
1711999
Disruption of POGZ is associated with intellectual disability and autism spectrum disorders
HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ...
The American Journal of Human Genetics 98 (3), 541-552, 2016
1702016
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
TS Koemans, T Kleefstra, MC Chubak, MH Stone, MRF Reijnders, ...
PLoS genetics 13 (10), e1006864, 2017
1492017
The genetics of cognitive epigenetics
T Kleefstra, A Schenck, JM Kramer, H Van Bokhoven
Neuropharmacology 80, 83-94, 2014
1212014
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