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David Koolen
David Koolen
Radboudumc
在 radboudumc.nl 的电子邮件经过验证
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引用次数
引用次数
年份
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
17822012
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
6922005
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
5322011
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
5242006
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ...
Human mutation 34 (12), 1721-1726, 2013
4052013
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
3212017
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
3112009
Whole exome sequencing of suspected mitochondrial patients in clinical practice
SB Wortmann, DA Koolen, JA Smeitink, L van den Heuvel, RJ Rodenburg
Journal of inherited metabolic disease 38, 437-443, 2015
2572015
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome
DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ...
Journal of medical genetics 45 (11), 710-720, 2008
2532008
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
DA Koolen, JM Kramer, K Neveling, WM Nillesen, HL Moore-Barton, ...
Nature genetics 44 (6), 639-641, 2012
2512012
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
DA Koolen, WM Nillesen, MHA Versteeg, GFM Merkx, N Knoers, M Kets, ...
Journal of medical genetics 41 (12), 892-899, 2004
2192004
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
DA Koolen, R Pfundt, N de Leeuw, JY Hehir‐Kwa, WM Nillesen, I Neefs, ...
Human mutation 30 (3), 283-292, 2009
2002009
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant
DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ...
European Journal of Human Genetics 24 (5), 652-659, 2016
1462016
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ...
The American Journal of Human Genetics 100 (6), 907-925, 2017
1402017
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ...
Human genetics 134, 97-109, 2015
1282015
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ...
Clinical genetics 84 (6), 539-545, 2013
1192013
De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias
KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ...
The American Journal of Human Genetics 103 (5), 666-678, 2018
1172018
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
I Feenstra, J Fang, DA Koolen, A Siezen, C Evans, RM Winter, MM Lees, ...
European journal of medical genetics 49 (4), 279-291, 2006
1082006
Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior
APM De Brouwer, R Abou Jamra, N Körtel, C Soyris, DL Polla, M Safra, ...
The American Journal of Human Genetics 103 (6), 1045-1052, 2018
1032018
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
BWM van Bon, DA Koolen, R Borgatti, A Magee, S Garcia-Minaur, ...
Journal of medical genetics 45 (6), 346-354, 2008
1022008
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