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Hans van Bokhoven
Hans van Bokhoven
Hoogleraar Radboudumc
Verified email at radboudumc.nl
Title
Cited by
Cited by
Year
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
YJ Crow, BE Hayward, R Parmar, P Robins, A Leitch, M Ali, DN Black, ...
Nature genetics 38 (8), 917-920, 2006
8982006
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...
Cell 99 (2), 143-153, 1999
8501999
Common genetic variants influence human subcortical brain structures
DP Hibar, JL Stein, ME Renteria, A Arias-Vasquez, S Desrivières, ...
Nature 520 (7546), 224-229, 2015
8242015
Isolation and identification of volatile kairomone that affects acarine predatorprey interactions Involvement of host plant in its production
M Dicke, TA Van Beek, MA Posthumus, N Ben Dom, H Van Bokhoven, ...
Journal of chemical ecology 16, 381-396, 1990
7891990
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
7862002
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
6762009
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ...
Journal of medical genetics 42 (12), 907-912, 2005
4562005
Genetic and epigenetic networks in intellectual disabilities
H Van Bokhoven
Annual review of genetics 45, 81-104, 2011
4532011
Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ...
Human molecular genetics 10 (3), 221-230, 2001
4532001
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
T Kleefstra, HG Brunner, J Amiel, AR Oudakker, WM Nillesen, A Magee, ...
The American Journal of Human Genetics 79 (2), 370-377, 2006
4222006
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation
H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ...
The American Journal of Human Genetics 69 (3), 481-492, 2001
4162001
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32-34, 2008
4062008
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
K Kutsche, H Yntema, A Brandt, I Jantke, H Gerd Nothwang, U Orth, ...
Nature genetics 26 (2), 247-250, 2000
3992000
p63-associated disorders
T Rinne, HG Brunner, H van Bokhoven
Cell cycle 6 (3), 262-268, 2007
3482007
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ...
Human molecular genetics 11 (8), 981-991, 2002
3482002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
F Laumonnier, N Ronce, BCJ Hamel, P Thomas, J Lespinasse, ...
The American Journal of Human Genetics 71 (6), 1450-1455, 2002
3372002
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
AHDM Dam, I Koscinski, JAM Kremer, C Moutou, AS Jaeger, ...
The American Journal of Human Genetics 81 (4), 813-820, 2007
3282007
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
H van Bokhoven, J Celli, H Kayserili, E van Beusekom, S Balci, W Brussel, ...
Nature genetics 25 (4), 423-426, 2000
3212000
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
LT Jae, M Raaben, M Riemersma, E Van Beusekom, VA Blomen, A Velds, ...
Science 340 (6131), 479-483, 2013
3032013
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ...
Cell 142 (2), 203-217, 2010
3022010
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