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Koenraad Devriendt

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Articles 181
Citations 4041
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Recent Articles
1.
Ngole M, Mbayabo G, Lumbala P, Race V, Mvuama N, Deman S, et al.
Mediterr J Hematol Infect Dis . 2025 Jan; 17(1):e2025001. PMID: 39830798
No abstract available.
2.
Makay P, Fasquelle C, Mubungu G, Ekolo E, Mupuala A, Fuanani P, et al.
Clin Dysmorphol . 2025 Jan; PMID: 39807610
No abstract available.
3.
Geysens M, Huremagic B, Souche E, Breckpot J, Devriendt K, Peeters H, et al.
Genome Med . 2025 Jan; 17(1):1. PMID: 39789644
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity...
4.
Van der Sluijs P, Moutton S, Dingemans A, Weis D, Levy M, Boycott K, et al.
Genet Med . 2024 Oct; 27(1):101283. PMID: 39355979
Purpose: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. Methods: We collected...
5.
Sleyp Y, Matthews H, Vanneste M, Vandenhove L, Delanote V, Hoskens H, et al.
Clin Genet . 2024 Jul; 106(5):603-613. PMID: 39056288
Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in...
6.
Megarbane A, Mehawej C, Mahfoud D, Chouery E, Devriendt K, Hijazi M, et al.
Eur J Med Genet . 2024 Apr; 69:104944. PMID: 38679370
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling...
7.
Struys I, Velazquez C, Devriendt K, Godderis L, Segers H, Thienpont B, et al.
BMJ Open . 2024 Mar; 14(3):e081833. PMID: 38548357
Introduction: Around 1 in 1000-2000 pregnancies are affected by a cancer diagnosis. Previous studies have shown that chemotherapy during pregnancy has reassuring cognitive and cardiac neonatal outcomes, and hence has...
8.
Kabuyi P, Mbayabo G, Ngole M, Zola A, Race V, Matthijs G, et al.
EJHaem . 2023 Aug; 4(3):595-601. PMID: 37601858
: Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence...
9.
Peluso F, Caraffi S, Contro G, Valeri L, Napoli M, Carboni G, et al.
J Med Genet . 2023 Aug; 60(12):1224-1234. PMID: 37586838
Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures....
10.
Lubala T, Kayembe-Kitenge T, Mubungu G, Lumaka A, Kanteng G, Savage S, et al.
Eur J Med Genet . 2023 Aug; 66(9):104819. PMID: 37532084
Background: Computer-aided software such as the facial image diagnostic aid (FIDA) and Face2Gene has been developed to perform pattern recognition of facial features with promising clinical results. The aim of...