Joris Veltman
Joris Veltman
Biosciences Institute, Newcastle University, United Kingdom
Geverifieerd e-mailadres voor newcastle.ac.uk - Homepage
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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
14162012
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
11932004
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
9932014
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
8442010
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
7642008
De novo mutations in human genetic disease
JA Veltman, HG Brunner
Nature Reviews Genetics 13 (8), 565-575, 2012
7362012
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
6452005
Identification of common variants associated with human hippocampal and intracranial volumes
JL Stein, SE Medland, AA Vasquez, DP Hibar, RE Senstad, AM Winkler, ...
Nature genetics 44 (5), 552-561, 2012
6092012
Genetic studies in intellectual disability and related disorders
LELM Vissers, C Gilissen, JA Veltman
Nature Reviews Genetics 17 (1), 9-18, 2016
5862016
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
5822011
Disruption of the neurexin 1 gene is associated with schizophrenia
D Rujescu, A Ingason, S Cichon, OPH Pietiläinen, MR Barnes, ...
Human molecular genetics 18 (5), 988-996, 2009
5252009
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
5242010
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
5182003
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
5142012
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
4602006
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
4192006
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
3562011
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
3522015
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
JI Friedman, T Vrijenhoek, S Markx, IM Janssen, WA Van Der Vliet, ...
Molecular psychiatry 13 (3), 261-266, 2008
3452008
Unlocking Mendelian disease using exome sequencing
C Gilissen, A Hoischen, HG Brunner, JA Veltman
Genome biology 12 (9), 1-11, 2011
3192011
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Artikelen 1–20