Medical Genetics

Research output

Research output per year 1973 2018 2019 2020 2021 2022 2023 2024 2025

• 30239 Citations
• 86 h-index
• 649 Article
• 105 Poster
• 76 Meeting abstract (Journal)
• 21 Meeting abstract (Book)
• 74 More
  • 14 Scientific review
  • 12 Unpublished abstract
  • 7 Letter
  • 7 PhD Thesis
  • 6 Other contribution
  • 5 Chapter
  • 5 Comment/debate
  • 5 Editorial
  • 5 Conference paper
  • 2 Other
  • 2 Unpublished paper
  • 2 Patent
  • 1 Book
  • 1 Master's Thesis

Research output per year

Research output per year

Search results

• 2025

  A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

  Uyttebroeck, S., Vlaeminck, J., De Schutter, E., Cordenier, A., Wellekens, S. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 14 Mar 2025, (Unpublished). 1 p.

  Research output: Unpublished contribution to conference › Poster

• A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer

  Volders, P-J., Aftimos, P., Dedeurwaerdere, F., Martens, G., Canon, J-L., Beniuga, G., Froyen, G., Van Huysse, J., De Pauw, R., Prenen, H., Lambin, S., Decoster, L., Vaeyens, F., Rottey, S., Van Dam, P-J., Decoster, L., Rutten, A., Schreuer, M., Loontiens, S., Van der Meulen, J., & 11 othersMebis, J., Cuppens, K., Tejpar, S., Vanden Bempt, I., De Grève, J., Schröder, D., van Marcke, C., Van Den Bulcke, M., de Azambuja, E., Punie, K. & Maes, B., Dec 2025, In: NPJ precision oncology. 9, 1, 9 p., 66.

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

  Open Access

• Androgens differentially modulate glucocorticoid effects on adipose tissue and lean mass

  Sommers, V., David, K., Helsen, C., Moermans, K., Stockmans, I., Ferrari, G., Dmitriev, R. I., Stegen, S., Meijer, O. C., Kroon, J., Claessens, F. & Dubois, V., Mar 2025, In: Journal of Endocrinology. 264, 3, e240061.

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

• 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)

• A systematic review and meta-analysis of double trophectoderm biopsy and/or cryopreservation in PGT: balancing the need for a diagnosis against the risk of harm

  Li Piani, L., Petrone, P., Brutto, M., De Vos, A., Van Der Kelen, A., Vaiarelli, A., Rienzi, L., Conforti, A., Cimadomo, D. & Verpoest, W., 1 Mar 2025, In: Human Reproduction Update. 31, 2, p. 102-115 14 p.

  Research output: Contribution to journal › Article › peer-review
  3 Citations (Scopus)

• Beyond Known Driver Variants - Unraveling variants of unknown significance in BRAF: A path to improve diagnosis, prognosis, and therapy in cancer patients

  Vanisterbecq, D., Vandenplas, H., Olsen, C., Vlaeminck, J., Vaeyens, F., Helsen, C., Hes, F. J., Giron, P. & Maes, K., 14 Mar 2025, (Unpublished). 1 p.

  Research output: Unpublished contribution to conference › Poster

• Correlations of ventricular fibrillation and monomorphic ventricular tachycardia with SCN5A mutations and other clinical variables in Brugada syndrome

  Pannone, L., Bisignani, A., Osei, R., Gauthey, A., Sorgente, A., Monaco, C., Della Rocca, D. G., Del Monte, A., Strazdas, A., Mojica, J., Al Housari, M., Miraglia, V., Mouram, S., Vetta, G., Paparella, G., Doundoulakis, I., Overeinder, I., Bala, G., Almorad, A., Ströker, E., & 9 othersPappaert, G., Sieira, J., de Ravel, T., La Meir, M., Sarkozy, A., Brugada, P., Chierchia, G. B., Van Dooren, S. & de Asmundis, C., May 2025, In: Heart Rhythm. 22, 5, p. 1355-1357 3 p.

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

• Impact of Pseudomonas aeruginosa carriage on ICU-acquired pneumonia: a European multicentre prospective cohort study

  ASPIRE-ICU Study Team, Mar 2025, In: Clinical Microbiology and Infection. 31, 3, p. 433-440 8 p., s1198.

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

  Open Access

• Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants

  Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S. R., Picchetta, L., Segers, I., Vlaeminck, J., Dequeker, B., Giron, P., Capalbo, A., Verpoest, W., Hes, F. J., Verdyck, P. & Gheldof, A., Mar 2025, In: Journal of Assisted Reproduction and Genetics. 42, 3, p. 763-771 9 p.

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

• The blood transcriptional response in patients developing intensive care unit-acquired pneumonia

  ASPIRE-ICU Study Team, 23 Jan 2025, In: European Respiratory Journal. 65, 4, 16 p., 2400592.

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

• The interplay between mitochondrial DNA genotypes, female infertility, ovarian response and mutagenesis in oocytes

  Van Der Kelen, A., Li Piani, L., Mertens, J., Regin, M., Couvreu De Deckersberg, E., Van De Velde, H., Sermon, K., Tournaye, H., Verpoest, W., Hes, F. J., Blockeel, C. & Spits, C., 2025, In: Human reproduction open. 2025, 1, 13 p., hoae074.

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

  Open Access

• 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

• Unraveling variants of unknown significance in BRAF: A path to improve diagnosis, prognosis, and therapy in cancer patients

  Vanisterbecq, D., Vandenplas, H., Olsen, C., Vlaeminck, J., Vaeyens, F., Helsen, C., Hes, F. J., Giron, P. & Maes, K., 2025, (Unpublished).

  Research output: Unpublished contribution to conference › Poster
• 2024

  A 10-year follow-up of reproductive outcomes in women attempting motherhood after elective oocyte cryopreservation

  Loreti, S., Darici, E., Nekkebroeck, J., Drakopoulos, P., Van Landuyt, L., De Munck, N., Tournaye, H. & De Vos, M., 1 Feb 2024, In: Human Reproduction. 39, 2, p. 355-363 9 p.

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

  Open Access

  File

  • Cryopreservation 100%
  • Oocytes 79%
  • Ovulation Induction 12%
  • Birth Rate 9%
  • Live Birth 8%
  9 Citations (Scopus)

  8 Downloads (Pure)

• 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

  • Chromosome Disorders 100%
  • Birth Rate 79%
  • Live Birth 71%
  • Genetic Testing 70%
  • Comparative Genomic Hybridization 40%
  12 Downloads (Pure)

• Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review

  van Pottelberghe, S., Kupper, N., Scheirlynck, E., Amin, A. S., Wilde, A. A. M., Hofman, N., Callus, E., Biller, R., Nekkebroeck, J., Van Dooren, S., Hes, F. J. & van der Crabben, S. N., Jun 2024, In: European Journal of Human Genetics. 32, 6, p. 607-618 12 p.

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

  Open Access

  File

  • Patient Reported Outcome Measures 100%
  • Systematic Reviews 66%
  • 4-amino-4'-hydroxylaminodiphenylsulfone 38%
  • Patient Health Questionnaire 32%
  • Patient-Centered Care 30%
  5 Citations (Scopus)

  10 Downloads (Pure)

• Association of Staphylococcus aureus bacterial load and colonization sites with the risk of postoperative S. aureus infection

  ASPIRE-SSI Study Team, Aug 2024, In: Open Forum Infectious Diseases. 11, 8, 8 p., ofae414.

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

  Open Access

  File
  1 Citation (Scopus)

  9 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)

• Case report: A case of severe capecitabine toxicity due to confirmed in trans compound heterozygosity of a common and rare DPYD variant

  de Haar-Holleman, A., Cortoos, P-J., Vlaeminck, J., Van Landuyt, P., Steurbaut, S., Vaeyens, F. & Haufroid, V., 23 Sept 2024, In: Frontiers in Pharmacology. 15, 6 p., 1459565.

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

  Open Access

• Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

  Spits, C., Mertens, J., Belva, F., van Montfoort, A. PA., Regin, M., Zambelli, F., Seneca, S., Couvreu De Deckersberg, E., Bonduelle, M-L., Tournaye, H., Stouffs, K., Barbé, K., Smeets, B., Van De Velde, H., Sermon, K. & Blockeel, C., 9 Feb 2024, In: Nature Communications. 15, 1, p. 1232 16 p., 1232 .

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

  Open Access

  File

  • Assisted Reproductive Techniques 100%
  • Reproduction 79%
  • gametocytes 78%
  • deoxyribonucleic acid 74%
  • Mitochondrial DNA 64%
  3 Citations (Scopus)

  26 Downloads (Pure)

• Clinically-relevant Germline Variants in Children with Non-Medullary Thyroid Cancer

  Dutch Pediatric Thyroid cancer consortium, van der Tuin, K., Ruano, D., Knijnenburg, J., van der Luijt, R. B., Morreau, H., Links, T. P. & Hes, F. J., 28 Feb 2024, In: The Journal of clinical endocrinology and metabolism. 109, 12, p. e2214-e2221 8 p.

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

  Open Access

  • Thyroid 100%
  • Thyroid Neoplasms 81%
  • Child 34%
  • Pendred syndrome 22%
  • Genes 21%
  3 Citations (Scopus)

• COL13A1 connects glycogen accumulation with the phenotype in Pompe disease

  Uyttebroeck, S., Vo Ngoc, D. T. L., Osei, R., Dequeker, B., Seneca, S., Hes, F. J. & Gheldof, A., 12 Apr 2024, (Unpublished).

  Research output: Unpublished contribution to conference › Poster

• Complex aneuploidy triggers autophagy and p53-mediated apoptosis and impairs the second lineage segregation in human preimplantation embryos

  Regin, M., Lei, Y., Couvreu De Deckersberg, E., Janssens, C., Huyghebaert, A., Guns, Y., Verdyck, P., Verheyen, G., Van de Velde, H., Sermon, K. & Spits, C., 9 Dec 2024, In: eLife. 12, 24 p.

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

  Open Access
  5 Citations (Scopus)

• Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients

  Smeets, N., Gheldof, A., Dequeker, B., Poleur, M., Maldonado Slootjes, S., Van Parijs, V., Deconinck, N., Dontaine, P., Alonso-Jimenez, A., De Bleecker, J., De Ridder, W., Herdewyn, S., Paquay, S., Vanlander, A., De Waele, L., Peirens, G., Beysen, D., Claeys, K. G., Dubuisson, N., Hansen, I., & 4 othersRemiche, G., Seneca, S., Bissay, V. & Régal, L., Sept 2024, In: Pediatric Neurology. 158, p. 57-65 9 p.

  Research output: Contribution to journal › Article › peer-review
  1 Citation (Scopus)

• Diagnostic performance of commercial antithrombin activity assays: do we get what we expect?

  Orlando, C., Drèze, C., Evenepoel, A., Seneca, S. & Jochmans, K., 2024, In: Belgian Journal of Hematology. 1 p.

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

• Diagnostic work-up in malformations of cortical development

  Rijckmans, E., Stouffs, K. & Jansen, A. C., Aug 2024, In: Developmental Medicine and Child Neurology. 66, 8, p. 974-989 16 p.

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

  Open Access

  File

  • Malformations of Cortical Development 100%
  • Cobblestone Lissencephaly 28%
  • Periventricular Nodular Heterotopia 24%
  • Polymicrogyria 22%
  • Lissencephaly 21%
  2 Citations (Scopus)

  105 Downloads (Pure)

• Discovery of a novel androgen receptor antagonist, MEL-6, with stereoselective activity and optimization of its metabolic stability

  Helsen, C., Karypidou, K., Thomas, J., De Leger, W., Nguyen, T., Joniau, S., Voet, A., Dehaen, W. & Claessens, F., May 2024, In: The Journal of Steroid Biochemistry and Molecular Biology. 239, 19 p., 106476.

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

• 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

  • Homeobox Genes 100%
  • Intellectual Disability 54%
  • Agenesis of Corpus Callosum 26%
  • Brain Diseases 18%
  • Classical Lissencephalies and Subcortical Band Heterotopias 15%
  3 Citations (Scopus)

  2 Downloads (Pure)

• Genetic Testing in Brugada Syndrome: A 30-Year Experience

  Pannone, L., Bisignani, A., Osei, R., Gauthey, A., Sorgente, A., Monaco, C., Della Rocca, D. G., Del Monte, A., Strazdas, A., Mojica, J., Al Housari, M., Miraglia, V., Mouram, S., Vetta, G., Paparella, G., Ramak, R., Overeinder, I., Bala, G., Almorad, A., Ströker, E., & 9 othersPappaert, G., Sieira, J., de Ravel, T., La Meir, M., Sarkozy, A., Brugada, P., Chierchia, G. B., Van Dooren, S. & de Asmundis, C., 1 Apr 2024, In: Circulation: Arrhythmia and Electrophysiology. 17, 4, 8 p., e012374.

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

  Open Access

  File

  • Brugada Syndrome 100%
  • Genetic Testing 74%
  • Cardiac Arrhythmias 21%
  • Medical Genetics 13%
  • Genes 12%
  10 Citations (Scopus)

  2 Downloads (Pure)

• Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11

  Odrzywolski, A., Tüysüz, B., Debeer, P., Souche, E., Voet, A., Dimitrov, B., Krzesińska, P., Vermeesch, J. R. & Tylzanowski, P., 20 Jan 2024, In: Genes. 15, 1, 13 p., 129.

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

  Open Access

  File

  • Femur bifid with monodactylous ectrodactyly 100%
  • Foot 15%
  • Extremities 13%
  • Hand Bones 13%
  • Genetic Heterogeneity 10%
  2 Citations (Scopus)

  10 Downloads (Pure)

• High-resolution and quantitative spatial analysis reveal intra-ductal phenotypic and functional diversification in pancreatic cancer

  Michiels, E., Madhloum, H., Van Lint, S., Messaoudi, N., Kunda, R., Martens, S., Giron, P., Olsen, C., Lefesvre, P., Dusetti, N., El Mohajer, L., Tomasini, R., Hawinkels, L. J., Ahsayni, F., Nicolle, R., Arsenijevic, T., Bouchart, C., Van Laethem, J-L. & Rooman, I., Jan 2024, In: Journal of pathology. 262, 1, p. 76-89 14 p.

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

  Open Access

  File

  • Spatial Analysis 100%
  • Pancreatic Neoplasms 73%
  • Cancer-Associated Fibroblasts 27%
  • Organoids 25%
  • Neoplasms 24%
  5 Citations (Scopus)

  38 Downloads (Pure)

• Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers

  Joris, S., Giron, P., Olsen, C., Seneca, S., Gheldof, A., Staessens, S., Shahi, R. B., De Brakeleer, S., Teugels, E., De Grève, J. & Hes, F. J., 13 Jun 2024, In: BMC Cancer. 24, 1, 9 p., 723.

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

  Open Access

  File

  • Neoplasm Genes 100%
  • Pancreatic Neoplasms 87%
  • Breast Neoplasms 58%
  • DNA Repair 36%
  • DNA Damage 34%
  12 Downloads (Pure)

• Identifying patients at risk for S. aureus ICU pneumonia: The added predictive value of immunological biomarkers

  ASPIRE-ICU Study Team, Recanatini, C., Paling, F. P., Hazard, D., Coenjaerts, F. E., Vlaeminck, J., Timbermont, L., Wolkewitz, M., Esser, M. T., Sifakis, F., Goossens, H., Bonten, M. J., Malhotra-Kumar, S., van Werkhoven, C. H. & Kluytmans, J. A. J. W., 30 Apr 2024, (Unpublished).

  Research output: Unpublished contribution to conference › Poster

• Intracranial administration of anti-PD-1 and anti-CTLA-4 immune checkpoint-blocking monoclonal antibodies in patients with recurrent high-grade glioma

  Duerinck, J., Lescrauwaet, L., Dirven, I., Del'haye, J., Stevens, L., Geeraerts, X., Vaeyens, F., Geens, W., Brock, S., Vanbinst, A-M., Everaert, H., Caljon, B., Bruneau, M., Lebrun, L., Salmon, I., Kockx, M., Tuyaerts, S. & Neyns, B., 5 Dec 2024, In: Neuro-oncology. 26, 12, p. 2208-2221 14 p., noae177.

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

  Open Access
  5 Citations (Scopus)

• Macrocephaly? Do not Forget SUFU

  Rijckmans, E., Bordon, V., de Ravel, T., Baert, E., Jansen, A. C. & Stouffs, K., Feb 2024, In: Pediatric Neurology. 151, p. 34-36 3 p.

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

  Open Access

  File
  1 Citation (Scopus)

  5 Downloads (Pure)

• MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency

  Nauwynck, E., De Vos, M., Gheldof, A., Dequeker, B. J., Van Der Kelen, A., Hes, F., Verheyden, S., Vanbesien, J., Gies, I., De Schepper, J. & Staels, W., 1 Oct 2024, In: Endocrinology, diabetes & metabolism case reports. 2024, 4, 6 p., e240012.

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

  Open Access

• Molecular aspects of preimplantation genetic testing (PGT) for Neurofibromatosis type 1 (NF1) in three large European PGT centers: challenges and pitfalls

  Vernimmen, V., De Rijcke, M., Moutou, C., De Die-Smulders, C. E. M. & Paulussen, A., 2024, In: Hum Reprod. 39, 1, p. 457 1 p., 108.898.

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

• Molecular epidemiology of Staphylococcus aureus colonizing the nose of patients admitted to European intensive care units

  ASPIRE-ICU Study Team, van der Schalk, T., Berkell, M., Vlaeminck, J., Coppens, J., Xavier, B. B., Timbermont, L., Vilken, T., Lammens, C., Recanatini, C., Paling, F. P., Ruzin, A., Sifakis, F., Esser, M. T., Bonten, M. J., Kluytmans, J. A. J. W., Goossens, H., Glupczynski, Y. & Malhotra-Kumar, S., 30 Apr 2024, (Unpublished).

  Research output: Unpublished contribution to conference › Poster

• Oocyte/zygote/embryo maturation arrest: a functional and clinical study expanding the phenotype of NOBOX variants

  Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S., Slegers, I., Vlaeminck, J., Verdyck, P., Dequeker, B., Giron, P., Verpoest, W., Hes, F. J. & Gheldof, A., 2024, In: Hum Reprod. 39, Supplement 1, p. I430 1 p., deae108.846.

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

• Oocyte/zygote/embryo maturation arrest: a functional and clinical study expanding the phenotype of NOBOX variants

  Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S. R., Segers, I., Vlaeminck, J., Verdyck, P., Dequeker, B., Giron, P., Verpoest, W., Hes, F. J. & Gheldof, A., 2024, (Unpublished).

  Research output: Unpublished contribution to conference › Poster

• Oocyte/zygote/embryo maturation arrest: expanding the phenotype of NOBOX variants 

  Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S. R., Segers, I., Vlaeminck, J., Dequeker, B., Giron, P., Verpoest, W., Hes, F. J., Verdyck, P. & Gheldof, A., 7 Jul 2024, (Unpublished).

  Research output: Unpublished contribution to conference › Poster

• Overcoming drug tolerance to enhance the efficacy of EGFR tyrosine kinase inhibitors

  Eggermont, C., 2024, 158 p.

  Research output: Thesis › PhD Thesis

  Open Access

  File

  • Drug Tolerance 100%
  • polo-like kinase 1 81%
  • Protein-Serine-Threonine Kinases 70%
  • Protein-Tyrosine Kinases 65%
  • Fibroblast Growth Factor 1 24%
  123 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

  • Lymphedema, Hereditary, II 100%
  • Lymphedema 61%
  • Hepatocyte Growth Factor 61%
  • human HGF protein 11%
  • Lymphatic System 9%

• Perspectives on sperm donor anonymity: insights from donor-conceived adults in Belgium

  Casteels, P., Nekkebroeck, J. & Tournaye, H., 1 Sept 2024, In: Human Reproduction. 39, 9, p. 2021-2031 11 p.

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

  Open Access

  File
  1 Citation (Scopus)

  30 Downloads (Pure)

• Phase II Trial Assessing the Repeatability and Tumor Uptake of [68Ga]Ga-HER2 Single-Domain Antibody PET/CT in Patients with Breast Carcinoma

  Gondry, O., Caveliers, V., Xavier, C., Vanhoeij, M., Verfaillie, G., Fontaine, C., Glorieus, K., De Grève, J., Joris, S., Luyten, I., Zwaenepoel, K., Vandenbroucke, F., Waelput, W., Thyparambil, S., Vaneycken, I., Cousaert, J., Bourgeois, S., Devoogdt, N., Goethals, L., Everaert, H., & 4 othersDe Geeter, F., Lahoutte, T., Keyaerts, M. & Raes, L., 1 Feb 2024, In: Journal of Nuclear Medicine. 65, 2, p. 178-184 7 p.

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

  Open Access

  File

  • Single-Domain Antibodies 100%
  • human ERBB2 protein 82%
  • 1,4,7-triazacyclononane-N,N',N''-triacetic acid 49%
  • Breast Neoplasms 43%
  • Fluorodeoxyglucose F18 25%
  18 Citations (Scopus)

  81 Downloads (Pure)

• Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

  Parijs, I., Brison, N., Vancoillie, L., Baetens, M., Blaumeiser, B., Boulanger, S., Désir, J., Dimitrov, B., Fieremans, N., Janssens, K., Janssens, S., Marichal, A., Menten, B., Meunier, C., Van Berkel, K., Van Den Bogaert, A., Devriendt, K., Van Den Bogaert, K. & Vermeesch, J. R., Jan 2024, In: European Journal of Human Genetics. 32, 1, p. 31-36 6 p.

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

  • Paternal Inheritance 100%
  • Maternal Inheritance 86%
  • Pregnant Women 54%
  • Alleles 49%
  • Genetic Counseling 49%
  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

  • Hydrocephalus 100%
  • Fetus 75%
  • Septum Pellucidum 74%
  • Genetic Databases 62%
  • Pregnancy 57%
  1 Citation (Scopus)

  9 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

• Rational evolution for altering the ligand preference of estrogen receptor alpha

  Eerlings, R., Gupta, P., Lee, X. Y., Nguyen, T., El Kharraz, S., Handle, F., Smeets, E., Moris, L., Devlies, W., Vandewinkel, B., Thiry, I., Ta, D. T., Gorkovskiy, A., Voordeckers, K., Henckaerts, E., Pinheiro, V. B., Claessens, F., Verstrepen, K. J., Voet, A. & Helsen, C., Apr 2024, In: Protein Science : A Publication of the Protein Society. 33, 4, 19 p., e4940.

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

  Open Access

• Realizing the power of cancer genetics

  Joris, S., 2024, 108 p.

  Research output: Thesis › PhD Thesis

  • Psychological Power 100%
  • Pancreatic Neoplasms 93%
  • Breast Neoplasms 58%
  • Neoplasm Genes 45%
  • Neoplasms 34%