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Segers Karin

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Main Referenced Co-authors
Bours, Vincent  (29)
Josse, Claire  (11)
Charlier, Carole  (8)
Georges, Michel  (8)
Boujemla, Bouchra  (5)
Main Referenced Keywords
Humans (10); Animals (6); Female (6); Male (6); Rwanda (5);
Main Referenced Unit & Research Centers
Human Genetics (2)
GIGA-Human Genetics (1)
GIGA‐R - Giga‐Research - ULiège [BE] (1)
Giga-Genetics - ULiège [BE] (1)
Main Referenced Disciplines
Genetics & genetic processes (33)
Oncology (8)
Pediatrics (3)
Endocrinology, metabolism & nutrition (2)
Veterinary medicine & animal health (2)

Publications (total 45)

The most downloaded
686 downloads
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 https://hdl.handle.net/2268/5141

The most cited

177 citations (Scopus®)

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 https://hdl.handle.net/2268/34423

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
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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
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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
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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
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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
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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
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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
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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.
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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
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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
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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
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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
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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

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

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

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

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