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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
Practical guidelines for managing patients with 22q11. 2 deletion syndrome
AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ...
The Journal of pediatrics 159 (2), 332-339. e1, 2011
GATA3 haplo-insufficiency causes human HDR syndrome
H Van Esch, P Groenen, MA Nesbit, S Schuffenhauer, P Lichtner, ...
Nature 406 (6794), 419-422, 2000
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
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
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase
A Irrthum, MJ Karkkainen, K Devriendt, K Alitalo, M Vikkula
The American Journal of Human Genetics 67 (2), 295-301, 2000
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
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
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 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
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
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
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
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
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
VEGF: A modifier of the del22q11 (DiGeorge) syndrome?
I Stalmans, D Lambrechts, F De Smet, S Jansen, J Wang, S Maity, ...
Nature medicine 9 (2), 173-182, 2003
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ...
Nature genetics 39 (8), 957-959, 2007
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
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
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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