  | Freire, M. V., MARTIN, M., Thissen, R., Van Marcke, C., SEGERS, K., SEPULCHRE, E., LEROI, N., LETE, C., FASQUELLE, C., Radermacher, J., Gokburun, Y., COLLIGNON, J., Sacré, A., JOSSE, C., PALMEIRA, L., & BOURS, V. (2022). Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants. Frontiers in Oncology, 12, 835581. doi:10.3389/fonc.2022.835581  Peer Reviewed verified by ORBi |
  | DOCAMPO MARTINEZ, E., MARTIN, M., GANGOLF, M., HARVENGT, J., BULK, S., SEGERS, K., LEROI, N., LETE, C., PALMARICCIOTTI, V., Freire Chadrina, M., LAMBERT, F., & Bours, V. (2021). Hérédité et cancer. Revue Médicale de Liège, 76 (5-6), 327-336. Peer reviewed |
 | Uyisenga, J., SEGERS, K., Lumaka, A. Z., Mugenzi, P., FASQUELLE, C., Boujemla, B., JOSSE, C., Mutesa, L., & Bours, V. (2020). Screening of germline mutations in young Rwandan patients with breast cancers. Molecular Genetics and Genomic Medicine. doi:10.1002/mgg3.1500 Peer Reviewed verified by ORBi |
 | Uyisenga, J., SEGERS, K., Butera, Y., Musoni, E., Uwimana, S., Habanabakize, T., Ruzigana, G., Mugenzi, P., JOSSE, C., BOURS, V., & Mutesa, L. (04 December 2019). Primary sarcoma of the breast in the young Rwandan females. Breast Cancer Reports, 6 (2). doi:10.7243/2057-1631-6-2 Peer reviewed |
 | Uyisenga, J., SEGERS, K., Lumaka Zola, A., Mugenzi, P., Boujemla, B., JOSSE, C., Mutesa, L., & BOURS, V. (26 September 2019). Germline mutations in young Rwandan with breast cancers [Paper presentation]. The Joint Minimally Invasive Surgery (MIS) & 3rd Rwanda Biotechnology Conference, Kigali, Rwanda. |
 | JADOT, V., SEGERS, K., Bours, V., KOHNEN, L., HONORE, P., MARTIN, M., DE FLINES, J., MUTIJIMA NZARAMBA, E., & LECLERCQ, P. (2019). Cancer gastrique diffus héréditaire Série de 8 patients appartenant à une même famille et revue de la littérature. Revue Médicale de Liège, 74 (3), 134-138. |
 | Uyisenga, J., SEGERS, K., Lumaka Zola, A., Mugenzi, P., FASQUELLE, C., Boujemla, B., JOSSE, C., Mutesa, L., & Bours, V. (20 September 2018). Screening of germline mutations in young Rwandan with breast cancer [Paper presentation]. Joint 11th Conference of African Society of Human Genetics (AfSHG)& 12th H3 Africa Consortium Meeting, Kigali, Rwanda. |
 | Uyisenga, J., SEGERS, K., Lumaka Zola, A., Mugenzi, P., FASQUELLE, C., Boujemla, B., JOSSE, C., Mutesa, L., & Bours, V. (11 September 2018). Germline mutations in young Rwandan with breast cancers [Poster presentation]. GIGA Cancer Day, Liège, Belgium. |
 | Lefebvre, M., Dieux-Coeslier, A., Baujat, G., Schaefer, E., Judith, S.-O., Bazin, A., Pinson, L., Attie-Bitach, T., Baumann, C., Fradin, M., PIERQUIN, G., Julia, S., Quelin, C., Doray, B., Berg, S., Vincent-Delorme, C., Lambert, L., Bachmann, N., Lacombe, D., ... Thevenon, J. (2018). Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Journal of Medical Genetics, 55 (6), 422-429. doi:10.1136/jmedgenet-2017-104939 Peer Reviewed verified by ORBi |
 | Costanza, B., Turtoi, A., Bellahcene, A., Hirano, T., Peulen, O., Blomme, A., Hennequiere, J., MUTIJIMA NZARAMBA, E., Boniver, J., Meuwis, M.-A., JOSSE, C., KOOPMANSCH, B., SEGERS, K., Yokobori, T., Fahmy, K., Thiry, M., COIMBRA MARQUES, C., Garbacki, N., Colige, A., ... Castronovo, V. (2018). Innovative methodology for the identification of soluble biomarkers in fresh tissues. Oncotarget, 9 (12), 10665-10680. doi:10.18632/oncotarget.24366 Peer Reviewed verified by ORBi |
 | RAMAEKERS, V., SEGERS, K., Sequeira, J. M., Koenig, M., Van Maldergem, L., Bours, V., Kornak, U., & Quadros, E. V. (2018). Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome. Molecular Genetics and Metabolism, 124 (1), 87-93. doi:10.1016/j.ymgme.2018.03.001 Peer Reviewed verified by ORBi |
 | Herfs, M., RONCARATI, P., KOOPMANSCH, B., Peulen, O., Bruyère, D., Lebeau, A., Hendrick, E., Hubert, P., PONCIN, A., Penny, W., Piazzon, N., Monnien, F., Guenat, D., Mougin, C., Prétet, J.-L., Vuitton, L., SEGERS, K., LAMBERT, F., BOURS, V., ... Delvenne, P. (2018). A dualistic model of primary anal canal adenocarcinoma with distinct cellular origins, etiologies, inflammatory microenvironments and mutational signatures: implications for personalized medicine. British Journal of Cancer, 118(10), 1302-1312. doi:10.1038/s41416-018-0049-2 Peer Reviewed verified by ORBi |
 | RAMAEKERS, V., SEGERS, K., SEQUEIRA, J., VAN MALDERGEM, L., KOENIG, M., KORNAK, U., & QUADROS, E. (May 2017). Genetic and Folate Receptor Antibody Analysis in the Infantile-onset Cerebral Folate Deficiency Syndrome [Paper presentation]. 11th International Conference on Homocysteine and One-Carbon Metabolism, Aarhus, Denmark. |
 | BOEMER, F., Fasquelle, C., D'OTREPPE DE BOUVETTE, S., JOSSE, C., DIDEBERG, V., SEGERS, K., GUISSARD, V., CAPRARO, V., Debray, F.-G., & Bours, V. (2017). A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. Scientific Reports, 7 (1), 17641. doi:10.1038/s41598-017-18038-x Peer Reviewed verified by ORBi |
 | Potorac, I., CORMAN, V., Manto, F., Dassy, S., SEGERS, K., THIRY, A., Bours, V., Daly, A., & Beckers, A. (2017). Genetic predisposition to breast cancer occuring in a male-to-female transsexual patient. In Abstract book : Symposium "Perspectives in Endocrinology". |
 | Detemmerman, L., BOEMER, F., SEGERS, K., & Olivier, S. (12 May 2016). Molecular detection of single nucleotide polymorphisms on whole blood without DNA extraction [Poster presentation]. International Society for Laboratory Hematology, Milan, Italy. |
 | Potorac, I., CORMAN, V., Manto, F., Dassy, S., SEGERS, K., THIRY, A., Bours, V., Daly, A., & BECKERS, A. (May 2016). Genetic predisposition to breast cancer occurring in a male-to-female transsexual patient [Poster presentation]. European Congress of Endocrinology, Munich, Germany. doi:10.1530/endoabs.41.EP615 |
 | CORMAN, V.* , Potorac, I.* , Manto, F., Dassy, S., SEGERS, K., THIRY, A., Bours, V., Daly, A., & BECKERS, A. (2016). Breast cancer in a male to female transsexual patient with a BRCA2 mutation. Endocrine-Related Cancer, 23 (5), 391-397. doi:10.1530/ERC-16-0057 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Boukerroucha, M., Josse, C., SEGERS, K., El Guendi, S., FRERES, P., JERUSALEM, G., & Bours, V. (26 March 2015). BRCA1 germline mutation and glioblastoma development: report of cases. BMC Cancer, 15, 181. doi:10.1186/s12885-015-1205-1 Peer Reviewed verified by ORBi |
 | SEGERS, K., BYNENS, A., & Bours, V. (06 March 2015). From Sanger to NGS : a rapid, cheap, easy and efficient move to next generation sequencing [Poster presentation]. 15th Belgium Society of Human Genetics Meeting, Charleroi, Belgium. |
 | Boukerroucha, M., Josse, C., El Guendi, S., FRERES, P., Marée, R., Wenric, S., SEGERS, K., COLLIGNON, J., JERUSALEM, G., & BOURS, V. (2015). Genetic study of triple negative breast cancers [Poster presentation]. Impakt Breast Cancer Conference, Brussels, Belgium. doi:10.1093/annonc/mdv116.11 |
 | DIDEBERG, V., SEGERS, K., KOOPMANSCH, B., LAMBERT, F., & Bours, V. (2015). PHARMACOGENOMIQUE ET MEDECINE PERSONNALISEE : VERS UN SCREENING SYSTEMATIQUE DE LA POPULATION ? Revue Médicale de Liège, 70 (5-6), 251-6. |
 | Boukerroucha, M., Josse, C., El Guendi, S., Boujemla, B., Freres, P., Marée, R., Wenric, S., SEGERS, K., COLLIGNON, J., Jerusalem, G., & Bours, V. (2015). Evaluation of BRCA1-related molecular features and microRNAs as prognostic factors for triple negative breast cancers. BMC Cancer, 15 (1), 755. doi:10.1186/s12885-015-1740-9 Peer Reviewed verified by ORBi |
| SEGERS, K., CABERG, J.-H., JACQUINET, A., & DEBRAY, F.-G. (15 March 2013). Homozygosity mapping in clinical setting : a usefull method in workup of patients born to consanguineous parents presenting with an heterogeneous autosomal recessive disorder [Poster presentation]. 13° Belgian Society of Human Genetics Meeting, Bruxelles, Belgium. |
 | SEGERS, K., PIERQUIN, G., GAILLEZ, S., Delbecque, K., Retz, M., Tebache, M., Waterham, H., Wanders, R., Ferdinandusse, S., & DEBRAY, F.-G. (2013). Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. Prenatal Diagnosis, 33 (2), 201-3. doi:10.1002/pd.4038 Peer Reviewed verified by ORBi |
| SEGERS, K., Debray, F.-G., Wuyts, W., Benoit, V., & Bours, V. (04 March 2011). Co-Occurence of two rare autosomal recessive syndromes in a young patient [Poster presentation]. 11° Belgian Society of Human Genetics Meeting, Louvain-la-Neuve, Belgium. |
 | BOEMER, F., Cornet, Y., LIBIOULLE, C., SEGERS, K., Bours, V., & SCHOOS, R. (2011). 3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry. Clinica Chimica Acta, 412 (15-16), 1476-9. doi:10.1016/j.cca.2011.04.031 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Lefebvre, C., Colinet, S., Segers, K., & Stevens, R. (2011). Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. Journal of Pediatrics, 158 (1), 165, 165.e1. doi:10.1016/j.jpeds.2010.06.057 Peer Reviewed verified by ORBi |
| SEGERS, K., Hanson, J., RAMAEKERS, V., & Bours, V. (02 November 2010). Molecular analysis of the FOLR genes in patients with cerebral folate deficiency [Poster presentation]. 60° American Society of Human Genetics Meeting. |
 | D'haene, B., Hellemans, J., Craen, M., De Schepper, J., Devriendt, K., Fryns, J.-P., Keymolen, K., Debals, E., de Klein, A., de Jong, E. M., Segers, K., De Paepe, A., Mortier, G., Vandesompele, J., & De Baere, E. (2010). Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. Journal of Clinical Endocrinology and Metabolism, 95 (6), 3010-8. doi:10.1210/jc.2009-2218 Peer Reviewed verified by ORBi |
 | Mutesa, L., Vanbellinghen, J.-F., Hellin, A.-C., Segers, K., Jamar, M., Pierquin, G., & Bours, V. (2009). Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome. Genetic Counseling, 20 (1), 9-17. Peer Reviewed verified by ORBi |
 | Mutesa, L., Azad, A. K., Verhaeghe, C., Segers, K., Vanbellinghen, J.-F., Ngendahayo, L., Rusingiza, E. K., Mutwa, P. R., Rulisa, S., Koulischer, L., Cassiman, J.-J., Cuppens, H., & Bours, V. (2009). Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms: Identification of Novel Cystic Fibrosis Transmembrane Conductance Regulator and Epithelial Sodium Channel Gene Variants. CHEST, 135 (5), 1233-42. doi:10.1378/chest.08-2246 Peer Reviewed verified by ORBi |
 | Mutesa, L., Pierquin, G., Segers, K., Vanbellinghen, J.-F., Gahimbare, L., & Bours, V. (2008). Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis. Journal of Tropical Pediatrics, 54 (5), 350-2. doi:10.1093/tropej/fmn034 Peer Reviewed verified by ORBi |
 | Ouyang, Y., SEGERS, K., BOUQUIAUX, O., WANG, F.-C., JANIN, N., ANDRIS, C., Shimazaki, H., Sakoe, K., Nakano, I., & Takiyama, Y. (2008). Novel SACS mutation in a Belgian family with sacsin-related ataxia. Journal of the Neurological Sciences, 264 (1-2), 73-6. doi:10.1016/j.jns.2007.07.022 Peer Reviewed verified by ORBi |
 | Mutesa, L., Pierquin, G., Janin, N., Segers, K., Thomee, C., Provenzi, M., & Bours, V. (2008). Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genetics and Cytogenetics, 182 (1), 40-2. doi:10.1016/j.cancergencyto.2007.12.005 Peer Reviewed verified by ORBi |
| SEGERS, K., MATHIAS, V., GAILLEZ, S., & Bours, V. (23 October 2007). Identification of a point mutation associated with SMA by direct sequencing of genomic DNA [Poster presentation]. 57° American Society of Human Genetics Meeting, San Diego, United States - California. |
| SEGERS, K., Germeau, P., Storm, K., Janin, N., & Bours, V. (25 October 2005). Identification of a nearly complete genomic BRCA1 deletion in six belgian families [Poster presentation]. 55° American Society of Human Genetics Meeting, Salt Lake City, United States - Utah. |
 | Cockett, N. E., Smit, M. A., Bidwell, C. A., SEGERS, K., Hadfield, T. L., Snowder, G. D., Georges, M., & Charlier, C. (2005). The callipyge mutation and other genes that affect muscle hypertrophy in sheep. Genetics, Selection, Evolution, 37 Suppl 1, 65-81. doi:10.1051/gse:2004032 Peer Reviewed verified by ORBi |
 | Smit, M.* , SEGERS, K.* , Carrascosa, L. G., Shay, T., Baraldi, F., Gyapay, G., Snowder, G., Georges, M.* , Cockett, N.* , & Charlier, C.*. (2003). Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype. Genetics, 163 (1), 453-6. Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
Shay, T. L., Berghmans, S., SEGERS, K., Meyers, S., Beever, J. E., Womack, J. E., Cockett, N. E., Georges, M., & Charlier, C. (2001). Fine-mapping and construction of a bovine contig spanning the ovine callipyge locus. Mammalian Genome, 12 (2), 141-9. doi:10.1007/s003350010248 Peer Reviewed verified by ORBi |
Charlier, C., SEGERS, K., Karim, L., Shay, T., Gyapay, G., Cockett, N., & Georges, M. (2001). The callipyge (CLPG) mutation enhances the expression of the coregulated DLK1, GTL2, PEG11 and MEG8 genes in cis without affecting their imprinting status. Nature Genetics, 27, 367-369. doi:10.1038/86856 Peer Reviewed verified by ORBi |
Paulsen, M., Takada, S., Youngson, N. A., Benchaib, M., SEGERS, K., Ferguson-Smith, A. C., Georges, M., & Charlier, C. (2001). Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region. Genome Research, 11 (12), 2085-94. doi:10.1101/gr.206901 Peer Reviewed verified by ORBi |
 | Berghmans, S., SEGERS, K., Shay, T., Cockett, N., Georges, M., & Charlier, C. (2001). Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes. Mammalian Genome, 12 (2), 183-5. doi:10.1007/s003350010246 Peer Reviewed verified by ORBi |
 | Charlier, C., SEGERS, K., Wagenaar, D., Karim, L., Berghmans, S., Jaillon, O., Shay, T., Weissenbach, J., Cockett, N., Gyapay, G., & Georges, M. (2001). Human - ovine comparative sequencing of a 250 kilobase imprinted domain encompassing the callipyge (clpg) gene and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11 and MEG8. Genome Research, 11, 850-862. doi:10.1101/gr.172701 Peer Reviewed verified by ORBi |
SEGERS, K., Vaiman, D., Berghmans, S., Shay, T., Meyers, S., Beever, J., Cockett, N., Charlier, C., & Georges, M. (2000). Construction and characterization of an ovine BAC contig spanning the callipyge locus. Animal Genetics, 31 (6), 352-9. doi:10.1046/j.1365-2052.2000.00676.x Peer Reviewed verified by ORBi |