  | 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 |
Chatelain, C., Harvengt, J., Leroy, P. (Other coll.), CABERG, J.-H. (Other coll.), Debray, F.-G. (Other coll.), BULK, S. (Other coll.), & Bours, V. (Other coll.). (17 March 2023). Missense variant c.593A>G p.(Lys198Arg) in CSNK2A1, a recurrent variant in Okur-Chung neurodevelopmental syndrome: a case report and review of literature [Poster presentation]. Annual Meeting : To DNA and beyond, Charleroi, Belgium. |
 | Jouret, G., Heide, S., Sorlin, A., Faivre, L., Chantot-Bastaraud, S., Beneteau, C., Denis-Musquer, M., Turnpenny, P. D., Coutton, C., Vieville, G., Thevenon, J., Larson, A., Petit, F., Boudry, E., Smol, T., Delobel, B., Duban-Bedu, B., Fallerini, C., Mari, F., ... Klink, B. (August 2022). Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study. Clinical Genetics, 102 (2), 117 - 122. doi:10.1111/cge.14141 Peer Reviewed verified by ORBi |
 | BOEMER, F., JOSSE, C., LUIS, G., Di Valentin, E., Thiry, J., CELLO, C., CABERG, J.-H., DADOUMONT, C., HARVENGT, J., Lumaka, A., BOURS, V., & DEBRAY, F.-G. (18 February 2022). Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy. International Journal of Molecular Sciences, 23 (4), 2253. doi:10.3390/ijms23042253 Peer Reviewed verified by ORBi |
Sonet, I., Gonon Rodrigues Palmeira, L., CHARLOTEAUX, B., CABERG, J.-H., Dideberg, V., & Bours, V. (17 September 2021). Validation of a CNV detection method on clinical-grade Exomes [Poster presentation]. 21th BeSHG meeting, Bruxelles, Belgium. |
 | BECKERS, P., CABERG, J.-H., DIDEBERG, V., Dangouloff, T., den Dunnen, J. T., BOURS, V., Servais, L., & BOEMER, F. (04 February 2021). Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon‑skipping therapy. Scientific Reports, 11, 3011. doi:10.1038/s41598-021-82725-z Peer Reviewed verified by ORBi |
  | BECKERS, P., CABERG, J.-H., DIDEBERG, V., Dangouloff, T., den Dunnen, J. T., BOURS, V., Servais, L., & BOEMER, F. (2021). Newborn Screening of Duchenne Muscular Dystrophy Specifically Targeting Deletions Amenable to Exon-skipping Therapy [Poster presentation]. European Human Genetics Conference - ESHG. |
 | BOEMER, F., Caberg, J.-H., Beckers, P., Dideberg, V., di Fiore, S., Bours, V., Marie, S., Dewulf, J., Marcelis, L., Deconinck, N., Daron, A., Blasco-Perez, L., Tizzano, E., Hiligsmann, M., Lombet, J., Pereira, T., Lopez-Granados, L., Shalchian-Tehran, S., van Assche, V., ... Servais, L. (2021). Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Scientific Reports, 11 (1), 19922. doi:10.1038/s41598-021-99496-2 Peer Reviewed verified by ORBi |
 | Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C.-O., Younis, N., Tamer, P., Douard, E., Thébault-Dagher, F., Côté, V., Charlebois, A.-R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., ... Simons Searchlight Consortium. (2021). Effects of eight neuropsychiatric copy number variants on human brain structure. Translational Psychiatry, 11 (1). doi:10.1038/s41398-021-01490-9 Peer Reviewed verified by ORBi |
 | Dangouloff, T., BOEMER, F., CABERG, J.-H., & Servais, L. (2020). Correspondence on: “Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?” by Kay et al. Genetics in Medicine. doi:10.1038/s41436-020-0887-1 Peer Reviewed verified by ORBi |
 | Dangouloff, T., BOEMER, F., DIDEBERG, V., CABERG, J.-H., & Servais, L. (2020). Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA [letter to the editor]. American Academy of Neurology. doi:10.1212/WNL.0000000000009907 Peer reviewed |
 | BOEMER, F., CABERG, J.-H., DIDEBERG, V., BECKERS, P., Marie, S., Marcelis, L., Bours, V., Dangouloff, T., & Servais, L. (September 2019). (S)un (M)ay (A)rise on SMA : l'espoir d'une region sans amyotrophie spinale. Revue Médicale de Liège, 74 (9), 461-464. Peer reviewed |
 | Boemer, F., CABERG, J.-H., Dideberg, V., DARDENNE, D., Bours, V., Hiligsmann, M., Dangouloff, T., & Servais, L. (2019). Newborn screening for SMA in Southern Belgium. Neuromuscular Disorders. doi:10.1016/j.nmd.2019.02.003 Peer Reviewed verified by ORBi |
 | Dangouloff, T., BOEMER, F., CABERG, J.-H., DIFIORE, S., BECKERS, P., MARIE, S., MARCELIS, L., & Servais, L. (2019). Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience. Neuromuscular Disorders, 29, 132. doi:10.1016/j.nmd.2019.06.339 Peer Reviewed verified by ORBi |
 | Uwineza, A., CABERG, J.-H., Hitayezu, J., Wenric, S., Mutesa, L., Vial, Y., Drunat, S., Passemard, S., Verloes, A., El Ghouzzi, V., & Bours, V. (2019). VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. European Journal of Medical Genetics, 62 (8). doi:10.1016/j.ejmg.2019.103704 Peer Reviewed verified by ORBi |
 | Cardenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zurcher, N. R., Hadjikhani, N., Beckmann, J. S., Reymond, A., Draganski, B., Jacquemont, S., Collins, D. L., CABERG, J.-H. (Other coll.), & DEBRAY, F.-G. (Other coll.). (2019). Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations. NeuroImage, 203, 116155. doi:10.1016/j.neuroimage.2019.116155 Peer Reviewed verified by ORBi |
 | Jonch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., Richetin, S., Pain, A., Genevieve, D., Kini, U., Le Caignec, C., Lespinasse, J., Skytte, A.-B., Isidor, B., Zweier, C., ... DEBRAY, F.-G. (Other coll.). (2019). Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of Medical Genetics, 56 (10), 701-710. doi:10.1136/jmedgenet-2018-105879 Peer Reviewed verified by ORBi |
 | Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., ... Girirajan, S. (2019). Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genetics in Medicine. doi:10.1038/s41436-018-0266-3 Peer Reviewed verified by ORBi |
 | D'OTREPPE DE BOUVETTE, S., Lombet, J., Tebache, M., CABERG, J.-H., & BULK, S. (16 February 2018). Another case of Galloway-Mowat syndrome associated with a biallelic mutation of the OSGEP gene [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
 | Allach El Khattabi, L., Heide, S., CABERG, J.-H., Andrieux, J., Doco Fenzy, M., Vincent-Delorme, C., Callier, P., Chantot-Bastaraud, S., Afenjar, A., Boute-Benejean, O., Cordier, M. P., Faivre, L., Francannet, C., Gerard, M., Goldenberg, A., Masurel-Paulet, A., Mosca-Boidron, A.-L., Marle, N., Moncla, A., ... Pipiras, E. (2018). 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. Journal of Medical Genetics. doi:10.1136/jmedgenet-2018-105389 Peer Reviewed verified by ORBi |
 | Martin-Brevet, S., Rodriguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jonch, A. E., Qureshi, A. Y., Zurcher, N. R., Conus, P., Chung, W. K., Sherr, E. H., Spiro, J. E., Kherif, F., Beckmann, J. S., Hadjikhani, N., Reymond, A., ... DEBRAY, F.-G. (Other coll.). (2018). Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biological Psychiatry. doi:10.1016/j.biopsych.2018.02.1176 |
 | Dangouloff, T., Hiligsmann, M., CABERG, J.-H., BOEMER, F., & Servais, L. (2018). Development of a decision-analytic model for the economic evaluation of newborn screening for spinal muscular atrophy. Neuromuscular Disorders, 28 (S29–S146), 59. doi:10.1016/j.nmd.2018.06.125 Peer Reviewed verified by ORBi |
 | HARVENGT, J., SAGOT, C., Decortis, T., Damry, N., Rondia, CABERG, J.-H., Bours, V., & BULK, S. (27 May 2017). A tale of two anomalies. A paternal duplication and a maternal deletion of 15q13 [Poster presentation]. European Human Genetics Conference, Copenhague, Denmark. |
 | 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., 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 |
 | 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. |
 | Rostomyan, L., Daly, A., Yuan, B., Fina, F., CABERG, J.-H., Trivellin, G., de Herder, W., Naves, L., Metzger, D., Cuny, T., Rabl, W., Shah, N., Jaffrain-Rea, M., Zatelli, M., Faucz, F., CASTERMANS, E., Nanni-Metellus, I., Lodish, M., Muhammad, A., ... Beckers, A. (2017). Somatic mosaicism is implicated in the etiology of XLAG syndrome. In Abstract book : Symposium "Perspectives in Endocrinology". |
 | Sticca, T., CABERG, J.-H., Wenric, S., Poulet, C., HERENS, C., JAMAR, M., Josse, C., El Guendi, S., MAX, S., BEGUIN, Y., GOTHOT, A., CAERS, J., & Bours, V. (2017). Genomic Studies of Multiple Myeloma Reveal an Association between X Chromosome Alterations and Genomic Profile Complexity. Genes, Chromosomes and Cancer, 56, 18-27. doi:10.1002/gcc.22397 Peer Reviewed verified by ORBi |
 | Rostomyan, L., Daly, A., Yuan, B., Fina, F., CABERG, J.-H., Trivellin, G., de Herder, W., Naves, L. A., Metzger, D., Cuny, T., Rabl, W., Shah, N., Jaffrain-Rea, M., Zatelli, M., Faucz, F., CASTERMANS, E., Nanni-Metellus, I., Lodish, M., Muhammad, A., ... Beckers, A. (2016). Somatic mosaicism is implicated in the etiology of XLAG syndrome. In 26nd meeting of the Belgian Endocrine Society - Abstract book. |
 | JAMAR, M., HERENS, C., MENTEN, C., Sticca, T., & CABERG, J.-H. (20 September 2016). Corrélation entre les caryotypes standard et moléculaire dans une série de 7 cas de LAL pédiatriques hyperdiploïdes [Poster presentation]. XXIIIème Colloque Association des Cytogénéticiens de Langue Française, Montpellier, France. |
 | Mangupli, R.* , Rostomyan, L.* , CASTERMANS, E., CABERG, J.-H., Camperos, P., Krivoy, J., Cuauro, E., BOURS, V., Daly, A., & BECKERS, A. (2016). Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening. Pituitary. doi:10.1007/s11102-016-0732-3 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Rostomyan, L., Mangupli, R., CASTERMANS, E., CABERG, J.-H., Camperos, P., Krivoy, J., Cuaruo, E., Bours, V., Daly, A., & BECKERS, A. (May 2016). Combined treatment with octreotide LAR and pegvisomant in patients with gigantism – acromegaly: clinical evaluation and genetic screening [Poster presentation]. European Congress of Endocrinology, Munich, Germany. doi:10.1530/endoabs.41.EP889 |
 | Daly, A., Yuan, B., Fina, F., CABERG, J.-H., Trivellin, G., Rostomyan, L., de Herder, W. W., Naves, L. A., Metzger, D., Cuny, T., Rabl, W., Shah, N. S., Jaffrain-Rea, M.-L., Zatelli, M. C., Faucz, F. R., CASTERMANS, E., Nanni-Metellus, I., Lodish, M., Muhammad, A., ... BECKERS, A. (02 March 2016). Somatic mosaicism underlies X-linked acrogigantism (XLAG) syndrome in sporadic male subjects. Endocrine-Related Cancer, 23 (4), 221-233. doi:10.1530/ERC-16-0082 Peer Reviewed verified by ORBi |
 | PIERQUIN, G., CABERG, J.-H., & BULK, S. (03 February 2016). Microdélétions et duplications 22q11.22 distales [Poster presentation]. 8èmes Assises de Génétique Humaine et Médicale, Lyon, France. |
 | Uwineza, A., Hitayezu, J., JAMAR, M., Caberg, J.-H., Murorunkwere, S., Janvier, N., Bours, V., & Mutesa, L. (2016). Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies. Journal of Tropical Pediatrics. doi:10.1093/tropej/fmv065 Peer Reviewed verified by ORBi |
 | Castinetti, F.* , Daly, A.* , Stratakis, C., CABERG, J.-H., CASTERMANS, E., Trivellin, G., Rostomyan, L., Saveanu, A., Jullien, N., Reynaud, R., Barlier, A., Bours, V., Brue, T., & Beckers, A. (2016). GPR101 mutations are not a frequent cause of congenital isolated growth hormone deficiency. Hormone and Metabolic Research, 1-5. doi:10.1055/s-0042-100733 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Loviglio, M. N., Leleu, M., Mannik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I. M., Waszak, S. M., Zazhytska, M. O., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A., Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., ... CABERG, J.-H. (Other coll.). (2016). Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry. doi:10.1038/mp.2016.84 Peer Reviewed verified by ORBi |
 | BOEMER, F., DEBERG, M., SCHOOS, R., CABERG, J.-H., GAILLEZ, S., Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., & DEBRAY, F.-G. (2016). Diagnostic pitfall in antenatal manifestations of CPT II deficiency. Clinical Genetics. doi:10.1111/cge.12593 Peer Reviewed verified by ORBi |
 | Daly, A., Lysy, P., Defilles, C., Rostomyan, L., Mohamed, A., CABERG, J.-H., Raverot, V., CASTERMANS, E., Marbaix, E., Maiter, D., Brunelle, C., Trivellin, G., Stratakis, C. A., BOURS, V., Raftopoulos, C., Beauloye, V., Barlier, A., & BECKERS, A. (2016). Growth hormone releasing hormone excess and blockade in X-LAG syndrome. Endocrine-Related Cancer. doi:10.1530/ERC-15-0478 Peer Reviewed verified by ORBi |
 | Rostomyan, L., Lysy, P., Desfilles, C., Trivellin, G., CABERG, J.-H., Mohamed, A., Raverot, V., Mantovani, G., Naves, L., Cheetham, T., Shah, N. S., Metzger, D., Zatelli, M., Strebkova, N., Mazerkina, N., Lodish, M., Marbaix, E., Maiter, D., Brunelle, C., ... Beckers, A. (2016). The genetic causes of pituitary gigantism. In Abstract book - Symposium "Perspectives in Endocrinology". |
| CASTERMANS, E., Auriemma, R., Rostomyan, L., SACRE, N., CABERG, J.-H., Bours, V., Daly, A., & Beckers, A. (2015). Etude moléculaire du gène AIP sur plus de 1400 individus atteints d'adénome hypophysaire. In Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie. |
| Rostomyan, L., Daly, A., PETROSSIANS, P., Trivellin, G., Shah, N., Mantovani, G., Neggers, S., CASTERMANS, E., CABERG, J.-H., Chanson, P., Zacharieva, S., Naves, L., & Beckers, A. (2015). The genetic causes of pituitary gigantism. In Endocrine Abstracts. |
 | Uwineza, A., BULK, S., CABERG, J.-H., & PIERQUIN, G. (06 March 2015). A new case of microdeletion 14q32.3 [Poster presentation]. 15th Belgium Society of Human Genetics Meeting, Charleroi, Belgium. |
| BULK, S., Decortis, T., Rondia, G., CABERG, J.-H., & Bours, V. (06 March 2015). A tale of two anomalies. A paternal duplication and a maternal deletion of 15q13 [Poster presentation]. 15th Belgium Society of Human Genetics Meeting, Charleroi, Belgium. |
| Daly, A., Lodish, M., Trivellin, G., Rostomyan, L., Faucz, F., Yuan, B., Naves, L. A., Choong, C., Lysy, P., Shah, N. S., Verrua, E., CABERG, J.-H., CASTERMANS, E., Zatelli, C., Schernthaner-Reiter, M., Villa, C., Metzger, D., Strebkova, N., Mazerkina, N., ... Beckers, A. (2015). Disease characteristics of patients with X-linked acrogigantism (X-LAG) syndrome. In Abstract book - ENDO 2015. |
| Lysy, P., Daly, A., Brunelle, C., CABERG, J.-H., Sznajer, Y., Gruson, D., Marbaix, E., BOURS, V., Maiter, D., Beckers, A., & Beauloye, V. (2015). Congenital gigantism in a girl with anterior pituitary hyperplasia : a new genes for a new disease. In Abstract book - 43ème Congrès Annuel de la Société Belge de Pédiatrie. |
 | Stratakis, C., Trivellin, G., Rostomyan, L., Lodish, M., Faucz, F., Naves, L. A., Choong, C., Lysy, P., Shah, N. S., Verrua, E., CABERG, J.-H., CASTERMANS, E., JAMAR, M., Zatelli, M., Schernthaner-Reiter, M., Villa, C., Metzger, D., Strebkova, N., Mazerkina, N., ... Beckers, A. (2015). X-Linked acro-gigantism (X-LAG) syndrome : a new form of infant-onset pituitary gigantism. In Abstract book - 14th International Pituitary Congress. |
| Trivellin, G., Daly, A., Faucz, F., Yuan, B., Rostomyan, L., Larco, D., Schernthaner-Reiter, M., Szarek, E., Leal, L., CABERG, J.-H., CASTERMANS, E., Villa, C., Dimopoulos, A., Chittiboina, P., Xekouki, P., Shah, N. S., Metzger, D., Lysy, P., Ferrante, E., ... Stratakis, C. (2015). X-Linked acro-gigantism (X-LAG) due to microduplications of chromosome Xq26 : A new disorder and implications for acromegaly. In Abstract book - ENDO 2015. |
 | DEBRAY, F.-G., Stumpfig, C., Vanlander, A. V., DIDEBERG, V., Josse, C., CABERG, J.-H., BOEMER, F., Bours, V., Stevens, R., Seneca, S., Smet, J., Lill, R., & van Coster, R. (2015). Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. Journal of Inherited Metabolic Disease. doi:10.1007/s10545-015-9857-1 Peer Reviewed verified by ORBi |
 | Rostomyan, L.* , Daly, A.* , PETROSSIANS, P., Natchev, E., Lila, A. R., Lecoq, A.-L., Lecumberri Santamaria, B., Trivellin, G., Salvatori, R., Moraitis, A., Holdaway, I., Kranenburg-Van Klaveren, D., Zatelli, M. C., Palacios, N., Nozieres, C., Zacharin, M., Ebeling, T. M. L., Ojaniemi, M., Rozhinskaya, L., ... Beckers, A. (2015). Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocrine-Related Cancer. doi:10.1530/ERC-15-0320 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Beckers, A.* , Lodish, M.* , Trivellin, G., Rostomyan, L., Lee, M., Faucz, F., Yuan, B., Choong, C., CABERG, J.-H., Verrua, E., Naves, L. A., Cheetham, T., Young, J., Lysy, P., PETROSSIANS, P., Cotterill, A., Shah, N. S., Metzger, D., CASTERMANS, E., ... Stratakis, C.*. (2015). X-linked acrogigantism syndrome : Clinical Profile and Therapeutic responses. Endocrine-Related Cancer, 22, 353-367. doi:10.1530/ERC-15-0038 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
| Sticca, T., Wenric, S., CABERG, J.-H., MAX, S., GOTHOT, A., CAERS, J., & Bours, V. (2015). Genomic study of multiple myeloma based on SNP-aCGH and high-throughput exome sequencing. |
BULK, S., PIERQUIN, G., GAILLEZ, S., GATOT, J.-S., CABERG, J.-H., & Bours, V. (07 February 2014). Evaluation of the distal 22q11 deletion syndrome. A highly variable phenotype [Poster presentation]. 14th Belgium Society of Human Genetics Meeting. |
 | CAERS, J., HAFRAOUI, K., KEUTGENS, A., CABERG, J.-H., LAMBERT, F., TASSIN, F., & BEGUIN, Y. (02 February 2014). Haematological and molecular responses in refractory anaemia with ring sideroblasts and thrombocytosis treated with lenalidomide. European Journal of Haematology, 92 (2), 179-180. doi:10.1111/ejh.12233 Peer Reviewed verified by ORBi |
 | Trivellin, G.* , Daly, A.* , Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., CABERG, J.-H., CASTERMANS, E., Villa, C., Dimopoulos, A., Chittiboina, P., Xekouki, P., Shah, N. S., Metzger, D., Lysy, P. A., Ferrante, E., ... Stratakis, C. A.*. (2014). Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation. New England Journal of Medicine. doi:10.1056/NEJMoa1408028 Peer Reviewed verified by ORBi* These authors have contributed equally to this work. |
 | Uwineza, A., CABERG, J.-H., Hitayezu, J., JAMAR, M., DIDEBERG, V., Rusingiza, E. K., Bours, V., Mutesa, L., & Hellin, A.-C. (2014). Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies. BMC Medical Genetics, 15 (1), 79. doi:10.1186/1471-2350-15-79 Peer Reviewed verified by ORBi |
 | Dorboz, I., Coutelier, M., Bertrand, A. T., CABERG, J.-H., Elmaleh-Berges, M., Laine, J., Stevanin, G., Bonne, G., Boespflug-Tanguy, O., & Servais, L. (2014). Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet Journal of Rare Diseases, 9 (1), 174. doi:10.1186/s13023-014-0174-9 Peer Reviewed verified by ORBi |
 | Teteli, R., Uwineza, A., Butera, Y., Hitayezu, J., Murorunkwere, S., Umurerwa, L., Ndinkabandi, J., Hellin, A.-C., JAMAR, M., CABERG, J.-H., Muganga, N., Mucumbitsi, J., Rusingiza, E. K., & Mutesa, L. (2014). Pattern of congenital heart diseases in Rwandan children with genetic defects. Pan African Medical Journal, 19, 85. doi:10.11604/pamj.2014.19.85.3428 Peer reviewed |
 | Vanakker, O., Vilain, C., Janssens, K., Van der Aa, N., Smits, G., Bandelier, C., Blaumeiser, B., BULK, S., CABERG, J.-H., De Leener, A., De Rademaeker, M., de Ravel, T., Desir, J., Destree, A., Dheedene, A., GAILLEZ, S., Grisart, B., Hellin, A.-C., Janssens, S., ... Devriendt, K. (2014). Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. European Journal of Medical Genetics, 57 (4), 151-6. doi:10.1016/j.ejmg.2014.02.002 Peer Reviewed verified by ORBi |
JACQUINET, A., VALDES SOCIN, H. G., LIBIOULLE, C., CABERG, J.-H., & VERLOES, A. (22 October 2013). Femoral-facial syndrome: long term follow-up and associated array CGH abnormalities [Poster presentation]. American Society of Human Genetics 63rd Annual Meeting, Boston, United States. |
JACQUINET, A., CABERG, J.-H., BOURS, V., & DEBRAY, F.-G. (June 2013). Intellectual disability and cancer susceptibility in a family with inherited 14q32.13q32.2 deletion [Poster presentation]. European Society of Human Genetics 2013, Paris, France. |
| 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. |
 | Uwineza, A., Hitayezu, J., Murorunkwere, S., Ndinkabandi, J., Kalala Malu, C. K., CABERG, J.-H., DIDEBERG, V., BOURS, V., & Mutesa, L. (2013). Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients. Journal of Tropical Pediatrics. doi:10.1093/tropej/fmt090 Peer Reviewed verified by ORBi |
 | Uwineza, A., PIERQUIN, G., GAILLEZ, S., JAMAR, M., CABERG, J.-H., & BOURS, V. (2013). Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13. Genetic Counseling, 24 (2), 193-200. Peer Reviewed verified by ORBi |
 | Garraux, G., CABERG, J.-H., Vanbellinghen, J.-F., JAMAR, M., Bours, V., Moonen, G., & DIVE, D. (2012). Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism. Archives of Neurology, 69 (3), 398-400. doi:10.1001/archneurol.2011.802 Peer Reviewed verified by ORBi |
JACQUINET, A., STEVENS, R., DEMONCEAU, N., CABERG, J.-H., MENTEN, B., & DEBRAY, F.-G. (March 2011). MBD5 deletion: a new recurrent cause of mental retardation [Poster presentation]. 39th Annual Meeting of The Belgian Society of Pediatrics, Bruxelles, Belgium. |
 | Cloosen, S., Caberg, J.-H., Huls, M. B., Vanderlocht, J., Senden-Gilsbers, B. L. M. G., Roncarati, P., Hubert, P., Delvenne, P., Germeraad, W. T. V., & Bos, G. M. J. (February 2009). Surface Mucin-1 does not play a role in dendritic cell migration. Molecular Immunology, 46 (4), 738-742. doi:10.1016/j.molimm.2008.07.033 Peer Reviewed verified by ORBi |
 | Caberg, J.-H., Hubert, P., Herman, L., Herfs, M., Roncarati, P., Boniver, J., & Delvenne, P. (January 2009). Increased migration of Langerhans cells in response to HPV16 E6 and E7 oncogene silencing: role of CCL20. Cancer Immunology, Immunotherapy, 58 (1), 39-47. doi:10.1007/s00262-008-0522-5 Peer Reviewed verified by ORBi |
 | Caberg, J.-H. (2008). Effet de la modulation de l’expression des oncogènes viraux E6 et E7 sur la production de facteurs immunitaires par les kératinocytes transformés par HPV16 [Doctoral thesis, Université de Liège]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/315225 |
 | Caberg, J.-H., Hubert, P., Begon, D., Herfs, M., Roncarati, P., Boniver, J., & Delvenne, P. (July 2008). Silencing of E7 oncogene restores functional E-cadherin expression in human papillomavirus 16-transformed keratinocytes. Carcinogenesis, 29 (7), 1441-7. doi:10.1093/carcin/bgn145 Peer Reviewed verified by ORBi |
 | Herfs, M., Hubert, P., Kholod, N., Caberg, J.-H., Gilles, C., Berx, G., Savagner, P., Boniver, J., & Delvenne, P. (May 2008). Transforming growth factor-beta1-mediated Slug and Snail transcription factor up-regulation reduces the density of Langerhans cells in epithelial metaplasia by affecting E-cadherin expression. American Journal of Pathology, 172 (5), 1391-402. doi:10.2353/ajpath.2008.071004 Peer Reviewed verified by ORBi |
 | Hubert, P., Jacobs, N., Caberg, J.-H., Boniver, J., & Delvenne, P. (October 2007). The cross-talk between dendritic and regulatory T cells: good or evil? Journal of Leukocyte Biology, 82 (4), 781-94. doi:10.1189/jlb.1106694 Peer Reviewed verified by ORBi |
 | Herman, L., Hubert, P., Caberg, J.-H., Evrard, B., Kedzia, W., Boniver, J., & Delvenne, P. (July 2007). MIP3 alpha stimulates the migration of Langerhans cells in models of human papillomavirus (HPV)-associated (pre)neoplastic epithelium. Cancer Immunology, Immunotherapy, 56 (7), 1087-1096. doi:10.1007/s00262-006-0255-2 Peer Reviewed verified by ORBi |
 | Delvenne, P., Herman, L., Kholod, N., Caberg, J.-H., Herfs, M., Boniver, J., Jacobs, N., & Hubert, P. (2007). Role of hormone cofactors in the human papillomavirus-induced carcinogenesis of the uterine cervix. Molecular and Cellular Endocrinology, 264 (1-2), 1-5. doi:10.1016/j.mce.2006.10.014 Peer Reviewed verified by ORBi |
 | Hubert, P., Herman, L., Maillard, C., Caberg, J.-H., Nikkels, A., Pierard, G., Foidart, J.-M., Noël, A., Boniver, J., & Delvenne, P. (2007). Defensis induce the recruitment of dendritic cells in cervical human papillomavirus-associated (pre)neoplastic lesions formed in vitro and transplanted in vivo. FASEB Journal, 21 (11), 2765-75. doi:10.1096/fj.06-7646com Peer Reviewed verified by ORBi |
 | Delvenne, P., Goffin, F., Kridelka, F., Arafa, M., Caberg, J.-H., Herfs, M., Herman, L., Hubert, P., Jacobs, N., Kholod, N., Boniver, J., & Foidart, J.-M. (2007). Le cancer du col de l'utérus: du virus au traitement. Revue Médicale de Liège, 62(S1), 2-6. |
| Hubert, P., Caberg, J.-H., Gilles, C., Bousarghin, L., Franzen-Detrooz, E., Boniver, J., & Delvenne, P. (July 2005). E-cadherin-dependent adhesion of dendritic and Langerhans cells to keratinocytes is defective in cervical human papillomavirus-associated (pre)neoplastic lesions. Journal of Pathology, 206 (3), 346-355. doi:10.1002/path.1771 Peer Reviewed verified by ORBi |