Volgen
devriendt
devriendt
professor in genetics leuven
Geverifieerd e-mailadres voor uzleuven.be
Titel
Geciteerd door
Geciteerd door
Jaar
GATA3 haplo-insufficiency causes human HDR syndrome
H Van Esch, P Groenen, MA Nesbit, S Schuffenhauer, P Lichtner, ...
Nature 406 (6794), 419-422, 2000
6202000
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
5522015
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
4972001
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
4742003
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
4622006
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
4532008
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, 1997
4201997
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
3971998
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
3962016
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ...
The American Journal of Human Genetics 80 (5), 994-1001, 2007
3462007
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
3342012
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
3172001
Recurrent reciprocal deletions and duplications of 16p13. 11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
FD Hannes, AJ Sharp, HC Mefford, T de Ravel, CA Ruivenkamp, ...
Journal of medical genetics 46 (4), 223-232, 2009
3052009
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
3042016
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
3042015
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
2812012
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
2781998
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
2742012
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
2622001
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), 79-88, 1999
2391999
Het systeem kan de bewerking nu niet uitvoeren. Probeer het later opnieuw.
Artikelen 1–20