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GATA3 haplo-insufficiency causes human HDR syndrome
H Van Esch, P Groenen, MA Nesbit, S Schuffenhauer, P Lichtner, ...
Nature 406 (6794), 419-422, 2000
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of …
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, ...
Journal of medical genetics 43 (8), 625-633, 2006
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
A Irrthum, K Devriendt, D Chitayat, G Matthijs, C Glade, PM Steijlen, ...
The American Journal of Human Genetics 72 (6), 1470-1478, 2003
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
K Devriendt, AS Kim, G Mathijs, SGM Frints, M Schwartz, JJ Van den Oord, ...
Nature genetics 27 (3), 313-317, 2001
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, ...
Journal of Medical Genetics 34 (6), 453-458, 1997
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ...
Science 319 (5864), 816-819, 2008
The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, JP Fryns, G Mortier, MN Van Thienen, K Keymolen
Journal of medical genetics 35 (9), 789, 1998
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ...
Human molecular genetics 10 (15), 1591-1600, 2001
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ...
The American Journal of Human Genetics 91 (3), 489-501, 2012
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
K Devriendt, C Vanhole, G Matthijs, F de Zegher
New England Journal of Medicine 338 (18), 1317-1318, 1998
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
HJ Lüdecke, J Schaper, P Meinecke, P Momeni, S Groß, D Von Holtum, ...
The American Journal of Human Genetics 68 (1), 81-91, 2001
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
A Swillen, K Devriendt, E Legius, P Prinzie, A Vogels, P Ghesquière, ...
Genetic counseling (Geneva, Switzerland) 10 (1), 79, 1999
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
T Kleefstra, JM Kramer, K Neveling, MH Willemsen, TS Koemans, ...
The American Journal of Human Genetics 91 (1), 73-82, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive‐behavioral spectrum, and psychiatric complications
A Swillen, A Vogels, K Devriendt, JP Fryns
American journal of medical genetics 97 (2), 128-135, 2000
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
AM Bertoli-Avella, E Gillis, H Morisaki, JMA Verhagen, BM De Graaf, ...
Journal of the American College of Cardiology 65 (13), 1324-1336, 2015
Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death
CE Clancy, Y Rudy
Cardiovascular research 50 (2), 301-313, 2001
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM De Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
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