متابعة
Joris Veltman
Joris Veltman
Institute of Genetics & Cancer, University of Edinburgh, United Kingdom
بريد إلكتروني تم التحقق منه على ed.ac.uk - الصفحة الرئيسية
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
18372012
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
14062014
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
13882004
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
9892010
De novo mutations in human genetic disease‏
JA Veltman, HG Brunner‏
Nature Reviews Genetics 13 (8), 565-575, 2012‏
9632012
Genetic studies in intellectual disability and related disorders‏
LELM Vissers, C Gilissen, JA Veltman‏
Nature Reviews Genetics 17 (1), 9-18, 2016‏
9362016
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
8642008
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
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
7252012
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
6972005
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
6352012
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
6162010
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
6002009
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
5652003
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
5312006
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
5232015
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability‏
SH Lelieveld, MRF Reijnders, R Pfundt, HG Yntema, EJ Kamsteeg, ...‏
Nature neuroscience 19 (9), 1194-1196, 2016‏
5112016
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
5102016
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
5042006
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
4272011
يتعذر على النظام إجراء العملية في الوقت الحالي. عاود المحاولة لاحقًا.
مقالات 1–20