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Alexander Hoischen
Alexander Hoischen
Radboud University Medical Center, Nijmegen, The Netherlands
Verificeret mail på radboudumc.nl - Startside
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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
18492012
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
14042014
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
9862010
Presence of genetic variants among young men with severe COVID-19
CI Van Der Made, A Simons, J Schuurs-Hoeijmakers, G van den Heuvel, ...
Jama 324 (7), 663-673, 2020
7902020
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
7472011
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
6962014
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
6362012
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), 483-485, 2010
6182010
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, 1-19, 2016
5202016
Long-read sequencing emerging in medical genetics
T Mantere, S Kersten, A Hoischen
Frontiers in genetics 10, 432668, 2019
4462019
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
4292011
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), 668-671, 2015
4112015
Unlocking Mendelian disease using exome sequencing
C Gilissen, A Hoischen, HG Brunner, JA Veltman
Genome biology 12 (9), 228, 2011
3672011
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
3492016
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
3492014
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
3492012
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
3482010
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
3292011
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
3192012
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
3052015
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Artikler 1–20