Publications and communications of Jean-Hubert CABERG

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

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

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

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

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

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

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

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.

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

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.

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

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

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
* 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

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
* These authors have contributed equally to this work.

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

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.

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
* 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.

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

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

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
* 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

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.

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

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

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