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Koen Devriendt

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Articles 172
Citations 4176
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Recent Articles
1.
Verbeke M, Hannes L, Devriendt K, Van den Bogaert K, Cools B, De Catte L, et al.
Sci Rep . 2025 Jan; 15(1):3923. PMID: 39890866
Congenital structural heart disease (CHD) is the leading cause of infant death from birth defects. Postnatal survival primarily depends on the type and severity of the defect. In addition, worse...
2.
Beyens A, Van de Voorde S, Guerreiro Santano Ramos Da Silva M, De Meulemeester S, Devriendt K, Goeteyn M, et al.
Clin Genet . 2025 Jan; PMID: 39828664
Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both...
3.
Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, et al.
Genome Res . 2024 Nov; PMID: 39537358
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short-read sequencing cannot...
4.
Lannoo L, Van den Bogaert K, Brison N, Dehaspe L, Dimitriadou E, Fieuws S, et al.
N Engl J Med . 2024 Jul; 391(2):184-185. PMID: 38986064
No abstract available.
5.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq . 2024 Jun; PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
6.
Verjans M, Hindryckx A, Rosier K, Devriendt K, Mekahli D, Bockenhauer D
Pediatr Nephrol . 2024 May; 39(10):2911-2913. PMID: 38753084
Infantile hypercalcemia (IH) is a rare genetic disorder characterized by hypercalcemia, hypercalciuria, low parathyroid hormone, and nephrocalcinosis during the first months of life. Biallelic variants in the genes CYP24A1 and...
7.
Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, et al.
bioRxiv . 2024 Apr; PMID: 38562770
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why the incidence of 22q11.2DS is much greater than that of other genomic disorders remains unknown. Short read sequencing...
8.
Veyt N, Van Buggenhout G, Devriendt K, Van den Bogaert K, Brison N
Eur J Hum Genet . 2024 Jan; 32(4):421-425. PMID: 38200083
46,XY gonadal dysgenesis (GD) is a disorder of sex development due to incomplete gonadal differentiation into testes, resulting in female to ambiguous external genitalia. Duplications at the Xp21.2 locus involving...
9.
Freud L, Galloway S, Crowley T, Moldenhauer J, Swillen A, Breckpot J, et al.
Am J Obstet Gynecol . 2023 Sep; 230(3):368.e1-368.e12. PMID: 37717890
Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is...
10.
de Borre M, Che H, Yu Q, Lannoo L, De Ridder K, Vancoillie L, et al.
Nat Med . 2023 Aug; 29(9):2206-2215. PMID: 37640858
Preeclampsia (PE) is a leading cause for peripartal morbidity, especially if developing early in gestation. To enable prophylaxis in the prevention of PE, pregnancies at risk of PE must be...