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Kathelijn Keymolen

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Articles 58
Citations 794
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Recent Articles
1.
Verdyck P, Berckmoes V, Fernandez Gallardo E, Keymolen K, Olsen C, De Rycke M
Genes (Basel) . 2025 Feb; 16(2). PMID: 40004444
Preimplantation genetic testing methods to detect aneuploidy (PGT-A) based on genomewide single nucleotide polymorphism (SNP) data were scarce and did not meet our needs. Hence, we developed a novel method...
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.
Van Der Kelen A, Keymolen K, Cools W, De Vos A, Polsler L, De Vos M, et al.
J Assist Reprod Genet . 2024 May; 41(7):1907-1915. PMID: 38753088
Purpose: Our objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing preimplantation genetic testing for monogenic disorders (PGT-M) and chromosomal...
4.
Alpaslan M, Fastre E, Mestre S, van Haeringen A, Repetto G, Keymolen K, et al.
Hum Mol Genet . 2024 Apr; 33(14):1250-1261. PMID: 38676400
Developmental and functional defects in the lymphatic system are responsible for primary lymphoedema (PL). PL is a chronic debilitating disease caused by increased accumulation of interstitial fluid, predisposing to inflammation,...
5.
Vanden Eynde N, Van den Mooter E, Vantroys E, De Schutter E, Leus A, Keymolen K, et al.
Prenat Diagn . 2024 Mar; 44(5):657-660. PMID: 38498110
The fetal phenotype of MPDZ-associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows...
6.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, et al.
J Med Genet . 2023 Oct; 61(2):103-108. PMID: 37879892
The Aristaless-related homeobox () gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of -related disorders is...
7.
Belva F, Kondowe F, De Vos A, Keymolen K, Buysse A, Hes F, et al.
Reprod Biol Endocrinol . 2023 Sep; 21(1):87. PMID: 37737174
Background: Studies show conflicting results on neonatal outcomes following embryo biopsy for PGT, primarily due to small sample sizes and/or heterogeneity in the timing of embryo biopsy (day 3; EBD3...
8.
Slegers I, Keymolen K, Van Berkel K, Dimitrov B, Van Dooren S, Cooreman R, et al.
Eur J Hum Genet . 2023 May; 32(6):673-680. PMID: 37173410
Rapid advances in genetic testing have improved the probability of successful genetic diagnosis. For couples who undergo a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques may...
9.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, et al.
Hum Genomics . 2023 Mar; 17(1):16. PMID: 36859317
Background: Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a...
10.
Belva F, Blockeel C, Keymolen K, Buysse A, Bonduelle M, Verheyen G, et al.
Fertil Steril . 2023 Feb; 119(6):932-941. PMID: 36774979
Objective: To assess health outcomes, including growth up to 2 years of age, in children born after embryo vitrification in comparison with children born after fresh embryo transfer. Design: A...