  | Harvengt, J., Lumaka, A., Fasquelle, C., CABERG, J.-H., Mastouri, M., JANSSEN, A., Gonon Rodrigues Palmeira, L., & Bours, V. (22 March 2023). HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome. Frontiers in Genetics, 14, 1137767. doi:10.3389/fgene.2023.1137767  Peer Reviewed verified by ORBi |
 | Lumaka Zola, A., Fasquelle, C., Debray, F.-G., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., VAESSEN, S., Viellevoye, R., Gonon Rodrigues Palmeira, L., CHARLOTEAUX, B., Brysse, A., BULK, S., Rigo, V., & Bours, V. (16 February 2023). Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours. International Journal of Molecular Sciences, 24 (4), 4003. doi:10.3390/ijms24044003 Peer Reviewed verified by ORBi |
 | NECHIFOR - POTORAC, I., Laterre, M., Malaise, O., NECHIFOR, V. A., Fasquelle, C., Colleye, O., Detrembleur, N., Verdin, H., Symoens, S., De Baere, E., Daly, A., Bours, V., Pétrossians, P., & Pintiaux, A. (28 January 2023). The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. Journal of Clinical Medicine, 12 (3). doi:10.3390/jcm12030990 Peer Reviewed verified by ORBi |
  | HARVENGT, J., Lumaka Zola, A., FASQUELLE, C., & BOURS, V. (26 February 2022). HIDEA Syndrome : A new case report highlighting similarities with ROHHAD Syndrome [Poster presentation]. ROHHAD International Consortium Virtual Symposium. Peer reviewed |
 | 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 |
 | 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 |
 | Jacquinet, A., Boujemla, B., FASQUELLE, C., Thiry, J., JOSSE, C., Lumaka, A., Brischoux-Boucher, E., Dubourg, C., David, V., Pasquier, L., Lehman, A., Morcel, K., Guerrier, D., & Bours, V. (2020). GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. Clinical Genetics, 98 (2), 126-137. doi:10.1111/cge.13769 Peer Reviewed verified by ORBi |
 | 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. |
 | Wenric, S., El Guendi, S., CABERG, J.-H., Bezzaou, W., Fasquelle, C., Charloteaux, B., Karim, L., Hennuy, B., FRERES, P., COLLIGNON, J., BOUKERROUCHA, M., SCHROEDER, H., Olivier, F., Jossa, V., JERUSALEM, G., JOSSE, C., & BOURS, V. (May 2017). Transcriptome wide analysis of natural antisense transcripts shows potential role in breast cancer [Poster presentation]. 50th meeting of the European Society of Human Genetics, Copenhagen, Denmark. |
 | Wenric, S.* , Sticca, T.* , CABERG, J.-H., Josse, C., Fasquelle, C., HERENS, C., JAMAR, M., MAX, S., GOTHOT, A., CAERS, J., & Bours, V. (2017). Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample. Genetic Epidemiology, 41, 35-40. doi:10.1002/gepi.22019 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Wenric, S., ElGuendi, S., CABERG, J.-H., Bezzaou, W., Fasquelle, C., Charloteaux, B., Karim, L., Hennuy, B., FRERES, P., COLLIGNON, J., BOUKERROUCHA, M., SCHROEDER, H., OLIVIER, F., Jossa, V., Jerusalem, G., JOSSE, C., & Bours, V. (2017). Transcriptome-wide analysis of natural antisense transcripts shows their potential role in breast cancer. Scientific Reports, 7 (1), 17452. doi:10.1038/s41598-017-17811-2 Peer Reviewed verified by ORBi |
 | 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 |
 | Freres, P.* , Wenric, S.* , BOUKERROUCHA, M., Fasquelle, C., Thiry, J., Bovy, N., Struman, I., Geurts, P., COLLIGNON, J., SCHROEDER, H., KRIDELKA, F., LIFRANGE, E., Jossa, V., Bours, V.* , Josse, C.* , & JERUSALEM, G.*. (2015). Circulating microRNA-based screening tool for breast cancer. Oncotarget. doi:10.18632/oncotarget.6786 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Sartelet, A.* , Li, W.* , Pailhoux, E., Richard, C., Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., & Charlier, C. (2015). Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle. BMC Genomics, 16 (316). doi:10.1186/s12864-015-1528-y Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Sartelet, A., Chapon, S., Fasquelle, C., Tamma, N., Georges, M., & Charlier, C. (27 June 2014). AN INTEGRATED APPROACH FOR THE MANAGEMENT OF INHERITED DISORDERS IN BELGIAN BLUE CATTLE BREED IN BELGIUM [Paper presentation]. Congreso Internacional ANEMBE de Medecina Bovina & IX ECBHM Symposium, Oviedo, Spain. |
 | Sartelet, A.* , Stauber, T.* , Coppieters, W., Ludwig, C. F., Fasquelle, C., Druet, T., Zhang, Z., Ahariz, N., Cambisano, N., Jentsch, T. J., & Charlier, C. (January 2014). A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle. Disease Models and Mechanisms, 7, 119-128. doi:10.1242/dmm.012500 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Sartelet, A., Li, W., Pailhoux Eric, Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., & Charlier, C. (2013). A splice-acceptor site variant in the bovine PIGH gene causes glycosylphosphatidyl inositol deficiency and lethal arthrogryposis syndrome. In C. Bayrou, J.-F. Cabaraux, C. Delguste, T. Jauniaux, A. Sartelet, ... D. Votion (Eds.), Proccedings of the 3rd Scientific Meetingof the Faculty of Veterinary Medecine (pp. 27). Liège, Belgium: Presses de la Faculté de Médecine Vétérinaire. Peer reviewed |
 | Sartelet, A., Li, W., Pailhoux, E., Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., & Charlier, C. (29 August 2013). A splice-acceptor site variant in the bovine PIGH gene causes glycosylphosphatidyl inositol deficiency and lethal arthrogryposis syndrome [Poster presentation]. Buiatrissima - 8th ECBHM Symposium, Berne, Switzerland. |
 | Wenric, S., JOSSE, C., Fasquelle, C., Poulet, C., Sticca, T., Boukerroucha, M., JERUSALEM, G., & Bours, V. (15 March 2013). Exome sequencing of tumors: relevance in copy-number alteration (CNA) analysis and fixed tissue samples [Poster presentation]. 13th Annual Meeting of the Belgian Society of Human Genetics, Bruxelles, Belgium. |
 | Sartelet, A., Li, W., Pailhoux, E., Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., & Charlier, C. (28 January 2013). A splice-acceptor site variant in the bovine PIGH gene causes glycosylphosphatidyl inositol deficiency and lethal arthrogryposis syndrome [Poster presentation]. GIGA-DAY, Liège, Belgium. |
 | Sartelet, A., Stauber, T., Coppieters, W., Fasquelle, C., Druet, T., Zhang, Z., Ahariz, N., Cambisano, N., Jentsch, T., Georges, M., & Charlier, C. (19 October 2012). A missense mutation in the ClC-7 chloride channel causes hamartomas with osteopetrosis in cattle [Paper presentation]. 2nd FMC Scientific day, Liège, Belgium. |
 | Sartelet, A.* , Klingbeil, P.* , Franklin, C., Fasquelle, C., Geron, S., Isacke, C., Georges, M., & Charlier, C. (October 2012). Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection? Animal Genetics, 43 (5), 604-607. doi:10.1111/j.1365-2052.2011.02311.x Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Sartelet, A., Stauber, T., Druet, T., Fasquelle, C., Tamma, N., Ahariz, N., Cambisano, N., Coppieters, W., Jentsch, T., & Georges, M. (05 June 2012). A missense mutation in the ClC-7 chloride channel causes hamartomas with osteopetrosis in cattle [Paper presentation]. XXVIIth Wolrd Buiatrics Congress, Lisbonne, Portugal. |
 | Sartelet, A., Druet, T., Michaux, C., Fasquelle, C., Geron, S., Tamma, N., Zhang, Z., Coppieters, W., Georges, M., & Charlier, C. (15 March 2012). A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response. PLoS Genetics, 15 (3), 1002581. doi:10.1371/journal.pgen.1002581 Peer Reviewed verified by ORBi |
 | Durkin, K., Coppieters, W., Drogemuller, C., Ahariz, N., Cambisano, N., Druet, T., Fasquelle, C., Haile, A., Horin, P., Huang, L., Kamatani, Y., Karim, L., Lathrop, M., Moser, S., Oldenbroek, K., Rieder, S., Sartelet, A., Solkner, J., Stalhammar, H., ... Charlier, C. (02 February 2012). Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature, 482 (7383), 81-4. doi:10.1038/nature10757 Peer Reviewed verified by ORBi |
 | Charlier, C., Agerholm, J. S., Coppieters, W., Karlskov-Mortensen, P., Li, W., de Jong, G., Fasquelle, C., Karim, L., Cirera, S., Cambisano, N., Ahariz, N., Mullaart, E., Georges, M., & Fredholm, M. (2012). A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. PLoS ONE, 7 (8), 43085. doi:10.1371/journal.pone.0043085 Peer Reviewed verified by ORBi |
 | Sartelet, A., Druet, T., Michaux, C., Fasquelle, C., Géron, S., Tamma, N., Zhang, Z., Coppieters, W., Georges, M., & Charlier, C. (09 December 2011). A splice site mutation in the bovine RNF11 gene is responsible of growth retardation and increased susceptibility to inflammatory diseases [Paper presentation]. 1st FMV Scientific Day, Liège, Belgium. |
 | Sartelet, A., Druet, T., Zhang, Z., Michaux, C., Fasquelle, C., Géron, S., Coppieters, W., Georges, M., & Charlier, C. (10 October 2011). A splice site mutation in the bovine RNF11 gene is responsible of growth retardation and increased susceptibility to inflammatory diseases [Poster presentation]. 4th International Symposium on Animal Functional Genomics, Dublin, Ireland. |
Durkin, K., Cambisano, N., Ahariz, N., Fasquelle, C., Karim, L., Sartelet, A., Drogemüller, C., Leeb, T., Coppieters, W., Georges, M., & Charlier, C. (May 2011). Molecular dissection of the color-sided pehnotype in cattle reveals a novel mechanism of chromosome evolution involving circular shuttling intermediates [Poster presentation]. The Biology Of Genomes, Cold Spring Harbor, United States - New York. |
 | Durkin, K., Cambisano, N., Ahariz, N., Fasquelle, C., Karim, L., Sartelet, A., Baurain, D., Drogemüller, C., Leeb, T., Coppieters, W., Georges, M., & Charlier, C. (May 2011). Molecular dissection of the color-sided phenotype in cattle reveals a novel mechanism of chromosome evolution involving circular shuttling intermediates. Chromosome Research, 19 (S1), 18. Peer Reviewed verified by ORBi |
 | Charlier, C., Sartelet, A., Fasquelle, C., Michaux, C., Mullaart, E., Agerholm, J. S., Fredholm, M., & Georges, M. (February 2011). Identification of disease-causing mutations allows for unbiased estimation of their overlooked pleïotropic effects on related quantitative traits [Poster presentation]. Gordon Research Conferences on Quantitative Genetics & Genomics, Galvestone, United States - Texas. |
 | Sartelet, A., Fasquelle, C., Tamma, N., Coppieters, W., Georges, M., & Charlier, C. (2010). A direct link between growth retardation and inflammation? Identification of a splice site mutation in the bovine RNF11 gene. New Biotechnology, (supplement 1), 63. |
 | Fasquelle, C.* , Sartelet, A.* , Li, W., Dive, M., Tamma, N., Michaux, C., Druet, T., Huijbers, I. J., Isacke, C. M., Coppieters, W., Georges, M., & Charlier, C. (2009). Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle. PLoS Genetics, 5 (9), 1000666. doi:10.1371/journal.pgen.1000666 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, J. S., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, J.-C., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, B. R., Simon, P., ... Georges, M. (2008). Highly effective SNP-based association mapping and management of recessive defects in livestock. Nature Genetics, 40 (4), 449-54. doi:10.1038/ng.96 Peer Reviewed verified by ORBi |