Alexander Hoischen
Alexander Hoischen
University Medical Centre Nijmegen
Geverifieerd e-mailadres voor gen.umcn.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
12102012
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
8142014
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
7512010
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
5012011
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
4982010
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
4582012
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
3532014
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
3212011
Unlocking Mendelian disease using exome sequencing
C Gilissen, A Hoischen, HG Brunner, JA Veltman
Genome biology 12 (9), 228, 2011
2982011
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
2972010
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
2712012
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
2212011
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
2202015
Human TLR10 is an anti-inflammatory pattern-recognition receptor
M Oosting, SC Cheng, JM Bolscher, R Vestering-Stenger, TS Plantinga, ...
Proceedings of the National Academy of Sciences 111 (42), E4478-E4484, 2014
2142014
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
2102010
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivičre, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440, 2012
2032012
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
C Bredrup, S Saunier, MM Oud, T Fiskerstrand, A Hoischen, D Brackman, ...
The American Journal of Human Genetics 89 (5), 634-643, 2011
1952011
New insights into the generation and role of de novo mutations in health and disease
R Acuna-Hidalgo, JA Veltman, A Hoischen
Genome biology 17 (1), 241, 2016
1712016
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ...
The American Journal of Human Genetics 93 (1), 29-41, 2013
1592013
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
B Coste, G Houge, MF Murray, N Stitziel, M Bandell, MA Giovanni, ...
Proceedings of the National Academy of Sciences 110 (12), 4667-4672, 2013
1562013
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Artikelen 1–20