Kathelijn Keymolen

2025

APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos

Verdyck, P., Berckmoes, V., Fernandez Gallardo, E., Keymolen, K., Olsen, C. & De Rycke, M., Feb 2025, In: Genes. 16, 2, 12 p., 115.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population

Beyens, A., Van De Voorde, S., Guerreiro Santano Ramos Da Silva, M., De Meulemeester, S., Devriendt, K., Goeteyn, M., Janssens, S., Kooy, R. F., Rosseel, T., Symoens, S., Hes, F. J., Keymolen, K., Dimitrov, B. & Callewaert, B., 19 Jan 2025, In: Clinical Genetics. 107, 5, p. 579-581 3 p.

Research output: Contribution to journal › Letter › peer-review

2024

A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements

Van Der Kelen, A., Keymolen, K., Cools, W., De Vos, A., Pölsler, L., De Vos, M., Blockeel, C., Fernandez-Gallardo, E., De Rycke, M., Berckmoes, V., Verdyck, P., Hes, F. J. & Verpoest, W., Jul 2024, In: Journal of Assisted Reproduction and Genetics. 41, 7, p. 1907-1915 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

16 Downloads (Pure)

A systematic review and standardized clinical validation of re-vitrification and/or re-biopsy of human embryos for preimplantation genetic testing (PGT): the REPEAT study

Petrone, P., Li Piani, L., Brutto, M., De Vos, A., De Rijcke, M., Verdyck, P., Fernandez Gallardo, E., Berckmoes, V., Keymolen, K., Roelens, C., De Munck, N., Hes, F. J., Conforti, A., Cimadomo, D. & Verpoest, W., 2024, In: Hum Reprod. 39, 1, p. 552 1 p., Abstract citation ID: deae108.1083 P-766.

Research output: Contribution to journal › Meeting abstract (Journal)

Further characterisation of ARX-related disorders in females due to inherited or de novo variants

Gras, M., Heide, S., Keren, B., Valence, S., Garel, C., Whalen, S., Jansen, A. C., Keymolen, K., Stouffs, K., Jennesson, M., Poirsier, C., Lesca, G., Depienne, C., Nava, C., Rastetter, A., Curie, A., Cuisset, L., Des Portes, V., Milh, M., Charles, P., & 2 othersMignot, C. & Héron, D., 19 Jan 2024, In: Journal of Medical Genetics. 61, 2, p. 103-108 6 p., jmg-2023-109203.

Research output: Contribution to journal › Article › peer-review

Open Access

File

3 Citations (Scopus)

3 Downloads (Pure)

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function

Alpaslan, M., Fastré, E., Mestre, S., van Haeringen, A., Repetto, G. M., Keymolen, K., Boon, L. M., Belva, F., Giacalone, G., Revencu, N., Sznajer, Y., Riches, K., Keeley, V., Mansour, S., Gordon, K., Martin-Almedina, S., Dobbins, S., Ostergaard, P., Quere, I., Brouillard, P., & 1 othersVikkula, M., 6 Jul 2024, In: Human Molecular Genetics. 33, 14, p. 1250-1261 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus

Vanden Eynde, N., Van den Mooter, E., Vantroys, E., De Schutter, E., Leus, A., Keymolen, K., Dimitrov, B. & van Berkel, K., 18 Mar 2024, In: Prenatal Diagnosis. 44, 5, p. 657-660 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

1 Citation (Scopus)

10 Downloads (Pure)

PW 31. Learning points from a cross-sectional cohort study in individuals with pathogenic variants in FLNA

Rijckmans, E., De Strooper, L. P., Keymolen, K., Jansen, A. & Stouffs, K., Mar 2024.

Research output: Unpublished contribution to conference › Poster

Searching for a sense of closure parental experiences of recontacting after a terminated pregnancy for congenital malformations

Slegers, I., Keymolen, K., Van Berkel, K., Dimitrov, B., Van Dooren, S., Cooreman, R., Hes, F. & Fobelets, M., Jun 2024, In: European Journal of Human Genetics. 32, p. 673-680 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Two unrelated cases of prenatal Shwachman-Diamond syndrome: a diagnosis complicated by a rare clinical presentation and a pseudogene

Vanden Eynde, N. E. M., Slegers, I., Vantroys, E., Symoens, S., Done, E., Leus, A., Brock, S., Keymolen, K., Hes, F. J., Dimitrov, B. & Van Berkel, K., 12 Apr 2024, (Unpublished).

Research output: Unpublished contribution to conference › Poster

Two unrelated cases of prenatal Shwachman-Diamond syndrome: a diagnosis complicated by a rare clinical presentation and a pseudogene

Vanden Eynde, N. E. M., Slegers, I., Vantroys, E., Symoens, S., Done, E., Leus, A., Brock, S., Keymolen, K., Hes, F. J., Dimitrov, B. & Van Berkel, K., 2024, (Unpublished).

Research output: Unpublished contribution to conference › Unpublished abstract

2023

Abstract citation ID: dead093.1085 P-773 No impact of cleavage-stage or blastocyst-stage embryo biopsy on growth and health in children up to 2 years of age

Belva, F., Kondowe, F., De Vos, A., Keymolen, K., Buysse, A., Hes, F. J., Verpoest, W. & De Rijcke, M., Jun 2023, In: Human Reproduction. 38, Supplement_1, p. i551-551 1 p.

Research output: Contribution to journal › Meeting abstract (Journal)

A novel FZR1 variant causing developmental: and epileptical encephalopathy

Bansagi, B. K., Scalais, E., Stouffs, K., de Ravel, T., Keymolen, K., Hes, F. J. & Dimitrov, B., 2023.

Research output: Unpublished contribution to conference › Poster

Cleavage-stage or blastocyst-stage embryo biopsy has no impact on growth and health in children up to 2 years of age

Belva, F., Kondowe, F., De Vos, A., Keymolen, K., Buysse, A., Hes, F., Berckmoes, V., Verdyck, P., Verpoest, W. & De Rycke, M., Dec 2023, In: Reproductive Biology and Endocrinology. 21, 1, 12 p., 87.

Research output: Contribution to journal › Article › peer-review

Open Access

File

1 Citation (Scopus)

53 Downloads (Pure)

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Jacquemin, V., Versbraegen, N., Duerinckx, S., Massart, A., Soblet, J., Perazzolo, C., Deconinck, N., Brischoux-Boucher, E., De Leener, A., Revencu, N., Janssens, S., Moorgat, S., Blaumeiser, B., Avela, K., Touraine, R., Abou Jaoude, I., Keymolen, K., Saugier-Veber, P., Lenaerts, T., Abramowicz, M., & 1 othersPirson, I., Dec 2023, In: Human genomics. 17, 1, 14 p., 16.

Research output: Contribution to journal › Article › peer-review

Open Access

File

7 Citations (Scopus)

81 Downloads (Pure)

Homozygous KIAA0586 Variant in short-rib thoracic dysplasia 14 with polydactyly in a foetus: why the foetal pathologist remains irreplaceable

Vanden Eynde, N. E. M., Vantroys, E., Poelsler, L., Kang, X., LECOMTE, S., RABINOWITCH, J., Keymolen, K., Hes, F. J., Dimitrov, B. & Van Berkel, K., 19 Jun 2023.

Research output: Unpublished contribution to conference › Poster

Immunomodulatory therapy helps patient with biallelic FLG variants become less itchy

Uyttebroeck, S., Reynaert, V., Gheldof, A., Poelsler, L., Keymolen, K., Hes, F. J. & Van de Voorde, S. R., 17 Mar 2023. 1 p.

Research output: Unpublished contribution to conference › Poster

Immunomodulatory therapy helps patient with biallelic FLG variants feel less itchy

Uyttebroeck, S., Reynaert, V., Gheldof, A., Poelsler, L., Keymolen, K., Hes, F. J. & Van de Voorde, S. R., 17 Mar 2023, (Unpublished).

Research output: Unpublished contribution to conference › Poster

Impact of embryo vitrification on children's health, including growth up to two years of age, in comparison with results following a fresh embryo transfer

Belva, F., Blockeel, C., Keymolen, K., Buysse, A., Bonduelle, M., Verheyen, G., Roelants, M., Tournaye, H., Hes, F. & Van Landuyt, L., Jun 2023, In: Fertility and Sterility. 119, 6, p. 932-941 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Citations (Scopus)

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., Allen, J., Shaulsky, G., Chelly, J., Marcorelle, P., Aziza, J., Villard, L., Sacaze, E., de Wit, M. C. Y., Wilke, M., Mancini, G. M. S., & 9 othersHehr, U., Lim, D., Mansour, S., Traynelis, S. F., Beneteau, C., Denis-Musquer, M., Jansen, A. C., Fry, A. E. & Bahi-Buisson, N., Feb 2023, In: Journal of Medical Genetics. 60, 2, p. 183-192 10 p., 107971.

Research output: Contribution to journal › Article › peer-review

Open Access

File

9 Citations (Scopus)

83 Downloads (Pure)

Predictive heatmap in Preimplantation Genetic Testing for Monogenic disorders (PGT-M) and Structural Rearrangements (PGT-SR)

Van Der Kelen, A., Berckmoes, V., Keymolen, K., Pö lsler, L., De Vos, A., De Vos, M., Blockeel, C., Fernandez-Gallardo, E., De Rycke, M., Verdyck, P., Hes, F. J. & Verpoest, W., 25 Nov 2023, In: Human Reproduction. 38, p. 523-524 2 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Predictive heatmap in Preimplantation Genetic Testing for Monogenic disorders (PGT-M) and Structural Rearrangements (PGT-SR)

Van Der Kelen, A., Berckmoes, V., Keymolen, K., Poelsler, L., Cools, W., De Vos, A., De Vos, M., Blockeel, C., Fernandez Gallardo, E., De Rijcke, M., Verdyck, P., Hes, F. J. & Verpoest, W., Jun 2023, ESHRE 2023 Abstract book. Supp 1 2023 ed. Human reproduction, Vol. 38. p. 709-709 1 p.

Research output: Chapter in Book/Report/Conference proceeding › Conference paper

Open Access

Predictive heatmap in Preimplantation Genetic Testing for Monogenic disorders (PGT-M) and Structural Rearrangements (PGT-SR)

Van Der Kelen, A., Berckmoes, V., Keymolen, K., Poelsler, L., Cools, W., De Vos, A., De Vos, M., Blockeel, C., Fernandez Gallardo, E., De Rijcke, M., Verdyck, P., Hes, F. J. & Verpoest, W., Jun 2023, p. 709-709. 1 p.

Research output: Unpublished contribution to conference › Poster

Open Access

Prenatal diagnosis of a homozygous nonsense MPDZ variant in a foetus with severe congenital hydrocephalus

Vanden Eynde, N. E. M., Van den Mooter, E., De Schutter, E., Leus, A., Keymolen, K., Hes, F. J., Dimitrov, B. & Van Berkel, K., 17 Mar 2023.

Research output: Unpublished contribution to conference › Poster

Searching for closure in prenatal diagnosis: Parental experiences of recontacting for extended genetic testing after a terminated pregnancy for fetal malformations

Slegers, I., Keymolen, K., Van Berkel, K., Dimitrov, B., Cooreman, R. & Hes, F., 1 May 2023, In: European Journal of Human Genetics. 31, p. 334 1 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Two unrelated patients with Nail-Patella syndrome and unusual additional features

Vanden Eynde, N. E. M., de Ravel, T., Poelsler, L., Gheldof, A., Seneca, S., Janssens, P., Bissay, V., Keymolen, K., Hes, F. J. & Dimitrov, B., Sept 2023, Eurodysmorpho abstract book. p. 22 1 p.

Research output: Chapter in Book/Report/Conference proceeding › Meeting abstract (Book)

2022

Analysis of parental contribution for aneuploidy detection (APCAD): a novel method to detect aneuploidy and mosaicism in preimplantation embryos

Verdyck, P., Berckmoes, V., Van Laere, S., Keymolen, K., Olsen, C. & De Rycke, M., Mar 2022, In: Reproductive Biomedicine Online. 44, 3, p. 459-468 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

5 Citations (Scopus)

80 Downloads (Pure)

Clinical characterization of 6 additional cases with a ARCN1 mutation: from severe fetal presentation to a recognizable craniofacial short stature syndrome

De Rademaeker, M., Van Berkel, K., De Schepper, J., Staels, W., France, A., Boecx, N., Mortier, G. R., Meuwissen, M., Wuyts, W., Brock, S., Keymolen, K., Vantroys, E., Slegers, I., Leus, A. & Dimitrov, B., Sept 2022, p. 71. 1 p.

Research output: Unpublished contribution to conference › Unpublished abstract

Extending the molecular and phenotypic spectrum of Bainbridge-Ropers syndrome

Van de Voorde, S. R., Vantroys, E., de Ravel, T., Keymolen, K., Hes, F. J. & Dimitrov, B., Apr 2022.

Research output: Unpublished contribution to conference › Poster

Extending the phenotypic spectrum of brainbridge-ropers syndrome

Van de Voorde, S. R., Vantroys, E., de Ravel, T., Keymolen, K., Hes, F. J. & Dimitrov, B., 2022, p. 85-86. 1 p.

Research output: Unpublished contribution to conference › Unpublished abstract

Huit nouveaux cas de patientes présentant un variant pathogène de novo dans le gène ARX et revue de la littérature du phénotype des femmes hétérozygotes.

Keymolen, K. & Stouffs, K., 3 Feb 2022, p. 14. 1 p.

Research output: Unpublished contribution to conference › Poster

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Marangoni, M., Smits, G., Ceysens, G., Costa, E., Coulon, R., Daelemans, C., De Coninck, C., Derisbourg, S., Gajewska, K., Garofalo, G., Gounongbe, C., Guizani, M., Holoye, A., Houba, C., Makhoul, J., Norgaard, C., Regnard, C., Romée, S., Soto, J., Stagel-Trabbia, A., & 33 othersVan Rysselberge, M., Vercoutere, A., Zaytouni, S., Bouri, S., D'Haene, N., D'Onle, D., Dugauquier, C., Racu, M-L., Rocq, L., Segers, V., Verocq, C., Avni, E. F., Cassart, M., Massez, A., Blaumeiser, B., Brischoux-Boucher, E., Bulk, S., De Ravel, T., Debray, G., Dimitrov, B., Janssens, S., Keymolen, K., Laterre, M., van Berkel, K., Van Maldergem, L., Vandernoot, I., Vilain, C., Donner, C., Tecco, L., Thomas, D., Désir, J., Abramowicz, M. & Migeotte, I., Feb 2022, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 24, 2, p. 344-363 20 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Citations (Scopus)

Is children's health up to two years of age affected by embryo vitrification?

Belva, F., Blockeel, C., Roelants, M., Keymolen, K., Buysse, A., Verheyen, G., Tournaye, H., Hes, F. & Van Landuyt, L., 1 Jul 2022, In: Human Reproduction. 37, p. 99-100 2 p.

Research output: Contribution to journal › Meeting abstract (Journal)

Is children’s health up to two years of age affected by embryo vitrification? POSTER DISCUSSION SESSION SESSION 58: SAFETY & QUALITY IN ART

Belva, F., Blockeel, C., Roelants, M., Keymolen, K., Buysse, A., Verheyen, G., Tournaye, H., Hes, F. J. & Van Landuyt, L., 1 Jul 2022, In: Human Reproduction. 37, Issue Supplement_1, p. i99-i99 1 p., Abstract citation ID: deac105.083.

Research output: Contribution to journal › Meeting abstract (Journal)

P-552 Analysis of the genomewide BAF profiles of selected SNPs allows reliable aneuploidy detection in preimplantation embryos, independent of haplotyping: Abstract citation ID: deac107.510

Verdyck, P., Berckmoes, V., Keymolen, K., Olsen, C. & De Rijcke, M., Jul 2022, p. i449-i449. 1 p.

Research output: Unpublished contribution to conference › Poster

Parental experiences of recontacting for extended genetic testing after terminated pregnancy for fetal malformations

Slegers, I., Keymolen, K., Van Berkel, K., Dimitrov, B., Cooreman, R. & Hes, F. J., Apr 2022.

Research output: Unpublished contribution to conference › Poster

Referral by the ophthalmologist leads to the diagnosis of a severe neurological disorder

Uyttebroeck, S., Kuijpers, R., Franckx, H. M. A., De Baere, E., Nekkebroeck, J., Keymolen, K., Hes, F. J. & de Ravel, T., 20 Apr 2022, (Unpublished).

Research output: Unpublished contribution to conference › Poster

T19: Analysis of the genomewide BAF profiles of selected SNPs allows reliable aneuploidy detection in preimplantation embryos, independent of hapoltyping

Verdyck, P., Berckmoes, V., Keymolen, K., Olsen, C. & De Rijcke, M., 21 Apr 2022.

Research output: Unpublished contribution to conference › Poster

Two years follow up of a patient with a de novo RAC1 gene syndrome

Cortés Jáuregui, A., Dimitrov, B., Stouffs, K., Keymolen, K., Hes, F. J., Jansen, A. & Rijckmans, E., Apr 2022.

Research output: Unpublished contribution to conference › Poster

2021

Open Access

3 Citations (Scopus)

Defining the phenotypical spectrum associated with variants in TUBB2A

Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J., Mirzaa, G., & 5 othersDobyns, W. B., Bahi-Buisson, N., Meuwissen, M., Jansen, A. C. & Stouffs, K., 1 Jan 2021, In: Journal of Medical Genetics. 58, 1, p. 33-40 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access