Publications and communications of Vinciane DIDEBERG

Grentzinger, V., GRISART, B., Meynsbrughen, M., Artesi, M., Gonon Rodrigues Palmeira, L., Dideberg, V., CHARLOTEAUX, B., Durkin, K. W., Brysse, A., & Bours, V. (25 May 2023). Detecting pathogenic variants in chronic kidney disease using long-read sequencing [Paper presentation]. Annual Meeting @ Living Tomorrow Vilvoorde, Vilvoorde, Belgium.

Gordon, D. M., Beckers, P., CASTERMANS, E., Neggers, S. J., ROSTOMYAN, L., Bours, V., Pétrossians, P., Dideberg, V., Beckers, A., & Daly, A. (01 December 2021). Dutch Founder SDHB Exon 3 Deletion in Patients with Pheochromocytoma-Paraganglioma in South Africa. Endocrine Connections, 11 (1). doi:10.1530/EC-21-0560

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

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

Lantoine, J., Brysse, A., DIDEBERG, V., Claes, K., Symoens, S., Coucke, W., Benoit, V., Rombout, S., De Rycke, M., Seneca, S., Van Laer, L., Wuyts, W., Corveleyn, A., Van Den Bogaert, K., Rydlewski, C., Wilkin, F., Ravoet, M., Fastré, E., Capron, A., & Vandevelde, N. M. (2021). Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers. JMIR Medical Informatics, 9 (7), 27980. doi:10.2196/27980

PETIGNOT, S., Daly, A., CASTERMANS, E., Korpershoek, E., Scagnol, I., BECKERS, P., Dideberg, V., Rohmer, V., Bours, V., & Beckers, A. (2020). Pancreatic neuroendocrine neoplasm associated with a familial MAX deletion. Hormone and Metabolic Research. doi:10.1055/a-1186-0790

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

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.

VALDES SOCIN, H. G., LIBIOULLE, C., DEBRAY, F.-G., DIDEBERG, V., BOURS, V., & BECKERS, A. (2019). A novel rare case of normosmic congenital hypogonadotropic hypogonadism associating a GnRHR and a KISS1R variants. In Endocrine Abstracts - ECE 2019.

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

VALDES SOCIN, H. G., Debray, F.-G., HARVENGT, J., LIBIOULLE, C., DIDEBERG, V., Bours, V., & Beckers, A. (September 2018). CHD7 impliqué dans l'hypogonadisme hypogonadotrope avec ou sans anosmie : description de 3 patients et de 3 nouvelles mutations [Poster presentation]. 35ème Congrès de la Société Française d'Endocrinologie, Nancy, France.

VALDES SOCIN, H. G., HARVENGT, J., Pintiaux, A., JONAS, C., PARENT, A.-S., Geenen, V., CORMAN, V., DEBRAY, F.-G., Dideberg, V., T'sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., Burlacu, C., VROONEN, L., Bours, V., ... Beckers, A. (September 2018). Etude multicentrique belge chez 56 patients avec hypogonadisme hypogonadotrope congénital (HHC) : caractérisation des anomalies génétiques et cérébrales [Poster presentation]. 35ème Congrès de la Société Française d'Endocrinologie, Nancy, France.

VALDES SOCIN, H. G., LIBIOULLE, C., HARVENGT, J., PINTIAUX, A., JONAS, C., Parent, A.-S., GEENEN, V., CORMAN, V., Debray, F.-G., DIDEBERG, V., T'Sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., Bours, V., Maiter, D., & Beckers, A. (May 2018). The first Belgian series of 56 patients with congenital hypogonadotropic hypogonadism (CHH) : genetics and brain abnormalities [Poster presentation]. 20th European Congress of Endocrinology.

VALDES SOCIN, H. G., LIBIOULLE, C., HARVENGT, J., Pintiaux, A., JONAS, C., PARENT, A.-S., GEENEN, V., CORMAN, V., Debray, F.-G., DIDEBERG, V., T'Sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., BOURS, V., Maiter, D., & BECKERS, A. (2018). Brain imaging and genetics in patients with congenital hypogonadotropic hypogonadism: a multicenter Belgian study. In J. O. Jorgensen, NENEG Abstract Book Communications (pp. 64). Aarhus, Denmark: Pfizer.

HARVENGT, J., LIBIOULLE, C., Debray, F.-G., DIDEBERG, V., Bours, V., & VALDES SOCIN, H. G. (16 February 2018). Brain MRI abnormalities and genetic results in a series of 30 patients with congenital isolated hypogonadotrophic hypogonadism (CIHH) [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

VALDES SOCIN, H. G., LIBIOULLE, C., DEBRAY, F.-G., DIDEBERG, V., BOURS, V., & BECKERS, A. (2018). Le Syndrome de Kallmann: un vieux syndrome revisité par la génétique. Urologic, 14, 1-7.

VALDES SOCIN, H. G., DEBRAY, F.-G., LIBIOULLE, C., DIDEBERG, V., BOURS, V., & Beckers, A. (2017). Syndrome de charge atypique avec hypogonadisme hypogonadotrope anosmique : description de 2 nouvelles mutations. In Annales d'Endocrinologie - abstract book.

Manard, M., Bahri, M. A., Majerus, S., Phillips, C., DIDEBERG, V., Salmon, E., & Collette, F. (01 February 2017). The complex effects of COMT Val158Met polymorphism (rs4680) on working memory in healthy aging: A multivariate approach [Poster presentation]. GIGA Day.

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

VALDES SOCIN, H. G., CORMAN, V., LIBIOULLE, C., Debray, F.-G., DIDEBERG, V., Bours, V., & Beckers, A. (2016). Hypogonadisme hypogonadotrope anosmique associé à une nouvelle mutation hétérozygote c.937C>T, p.His314Tyr de l'isoforme IIIb du gène FGR1. In Annales d'Endocrinologie : 33ème congrès de la Société Française d'Endocrinologie.

VALDES SOCIN, H. G., DEBRAY, F.-G., LIBIOULLE, C., Pintiaux, A., Parent, A.-S., CORMAN, V., Gellner, K., Geenen, V., VROONEN, L., DIDEBERG, V., Bours, V., & BECKERS, A. (2016). Caractérisation clinique, neuroendocrinienne, génétique et résultats thérapeutiques dans le syndrome de Kallmann et de l'hypogonadisme normosmique idiopathique : expérience liégeoise. In Annales d'Endocrinologie : 33ème congrès de la Société Française d'Endocrinologie.

Manard, M., François, S., Bahri, M. A., Phillips, C., BOURS, V., BERTOLI, S., DIDEBERG, V., Salmon, E., & Collette, F. (10 May 2016). The influence of COMT single nucleotide polymorphism (rs4680) on the neural substrates of working memory representations maintenance in healthy aging [Poster presentation]. IUAP Annual meeting.

Potorac, I., Pintiaux, A., VALDES SOCIN, H. G., LIBIOULLE, C., DEBRAY, F.-G., DIDEBERG, V., Bours, V., & Beckers, A. (2016). Double genetic defect in a case of congenital hypogonadotropic hypogonadism. In Abstract book - 17th World Congress of Gynecological Endocrinology.

Jaspar, M., Manard, M., DIDEBERG, V., Bours, V., Maquet, P., & Collette, F. (2016). Influence of COMT Genotype on Antero-Posterior Cortical Functional Connectivity Underlying Interference Resolution. Cerebral Cortex, 26, 498-509. doi:10.1093/cercor/bhu188

VALDES SOCIN, H. G., LIBIOULLE, C., Debray, F.-G., Pintiaux, A., Parent, A.-S., CORMAN, V., Gellner, K., Geenen, V., Burlacu, C., JONAS, C., Maiter, D., T'Sjoen, G., Poppe, K., Brachet, C., DIDEBERG, V., Bours, V., & Beckers, A. (2016). Neuroendocrine phenotype, genetics and hormonal treatment outcome in idiopathic normosmic hypogonadism and Kallman syndrome patients : A multicenter Belgian Study. In Acta Clinical Belgica.

VALDES SOCIN, H. G., Pintiaux, A., LIBIOULLE, C., DEBRAY, F.-G., DIDEBERG, V., Bours, V., & Beckers, A. (2015). Hypogonadisme hypogonadotrope normosmique familial : identification d'une nouvelle mutation c.1664-2A> T du gène FGFR1. In Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie.

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

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.

Jaspar, M., DIDEBERG, V., Bours, V., Maquet, P., & Collette, F. (2015). Modulating effect of COMT Val158Met polymorphism on interference resolution during a working memory task. Brain and Cognition, 95, 7-18. doi:10.1016/j.bandc.2015.01.013

Jaspar, M., DIDEBERG, V., Bours, V., Salmon, E., Maquet, P., & Collette, F. (2015). Modulating effect of COMT Val158Met polymorphism on interference resolution during a working memory task [Poster presentation]. GIGA DAY 2014.

VALDES SOCIN, H. G., Daly, A., Burlacu, C., CHAVEZ, V., CASTERMANS, E., DIDEBERG, V., HAMOIR, E., BISOGNI, C., BETEA, D., Bours, V., & Beckers, A. (2014). Le cancer thyroïdien papillaire familial (FNMTC): études cliniques et génétiques chez 8 familles. In Abstract book - Annales d'Endocrinologie : 31ème Congrès de la Société Française d'Endocrinologie, Lyon 5-8 novembre 2014.

Jaspar, M., Genon, S., Muto, V., Meyer, C., Manard, M., DIDEBERG, V., BOURS, V., SALMON, E., Maquet, P., & Collette, F. (2014). Modulatory effect of COMT genotype on brain regions underlying proactive control process during inhibition [Poster presentation]. PAI meeting 2014.

Jaspar, M., Genon, S., Muto, V., Meyer, C., Manard, M., DIDEBERG, V., Bours, V., Salmon, E., Maquet, P., & Collette, F. (2014). Modulating effect of COMT genotype on the brain regions underlying proactive control process during inhibition. Cortex: A Journal Devoted to the Study of the Nervous System and Behavior, 50, 148-161. doi:10.1016/j.cortex.2013.06.003

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

Ziegler, E., Foret, A., Mascetti, L., Muto, V., Le Bourdiec-Shaffii, A., Stender, J., Balteau, E., DIDEBERG, V., Bours, V., Maquet, P., & Phillips, C. (2013). Altered white matter architecture in BDNF Met carriers. PLoS ONE. doi:10.1371/journal.pone.0069290

Phillips, C., Foret, A., Mascetti, L., Muto, V., Shaffi-Le Bourdiec, A., Stender, J., DIDEBERG, V., BOURS, V., Maquet, P., & Ziegler, E. (19 June 2013). Connectome-based classification of BDNF Met allele carriers [Paper presentation]. 19th Annual Meeting of the Organization for Human Brain Mapping, Seattle, United States.

Ziegler, E., Foret, A., Mascetti, L., Muto, V., Le Bourdiec-Shaffi, A., Stender, J., Balteau, E., DIDEBERG, V., BOURS, V., Maquet, P., & Phillips, C. (June 2013). Connectome-based classification of BDNF Met allele carriers [Poster presentation]. 19th Annual Meeting of the Organization for Human Brain Mapping, Seattle, United States.

Mascetti, L., Foret, A., Schrouff, J., Muto, V., DIDEBERG, V., Balteau, E., Degueldre, C., Phillips, C., Luxen, A., Collette, F., BOURS, V., & MAQUET, P. (2013). Concurrent Synaptic and Systems Memory Consolidation during Sleep. Journal of Neuroscience, 33 (24), 10182-10190. doi:10.1523/JNEUROSCI.0284-13.2013

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

Lopez-Herrera, G., Tampella, G., Pan-Hammarstrom, Q., Herholz, P., Trujillo-Vargas, C. M., Phadwal, K., Simon, A. K., Moutschen, M., Etzioni, A., Mory, A., Srugo, I., Melamed, D., Hultenby, K., Liu, C., Baronio, M., Vitali, M., Philippet, P., DIDEBERG, V., Aghamohammadi, A., ... Grimbacher, B. (2012). Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. American Journal of Human Genetics, 90 (6), 986-1001. doi:10.1016/j.ajhg.2012.04.015

Orlent, H., Reynaert, H., Bourgeois, S., DIDEBERG, V., Adler, M., Colle, I., De Maeght, S., Laleman, W., Michielsen, P., Moreno, C., Mulkay, J.-P., Starkel, P., & DELWAIDE, J. (2011). IL28B polymorphism and the control of hepatitis C virus infection: ready for clinical use? Acta Gastro-Enterologica Belgica, 74 (2), 317-322.

Mascetti, L., Foret, A., Matarazzo, L., Muto, V., Balteau, E., Phillips, C., Degueldre, C., Luxen, A., DIDEBERG, V., Bours, V., & Maquet, P. (15 November 2010). Influence of brain-derived neurotrophic factor val66met human polymorphism on declarative memory consolidation [Poster presentation]. Society for Neuroscience, San Diego, United States.

Mascetti, L., Foret, A., Matarazzo, L., Muto, V., DIDEBERG, V., Bours, V., & Maquet, P. (15 September 2010). Influence of Brain-Derived Neurotrophic Factor val66met human polymorphism on declarative memory consolidation during sleep. Journal of Sleep Research, 19 (s2).

Dideberg, V., Kristjansdottir, G., Milani, L., Libioulle, C., Sigurdsson, S., Louis, E., Wiman, A. C., Vermeire, S., Rutgeerts, P., Belaiche, J., Franchimont, D., Van Gossum, A., Bours, V., & Syvanen, A. C. (15 December 2007). An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Human Molecular Genetics, 16 (24), 3008-3016. doi:10.1093/hmg/ddm259

Dideberg, V. (2007). Genetics and pharmacogenetics of inflammatory bowel diseases [Doctoral thesis, Université de Liège]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/314934

Dideberg, V., Theatre, E., Farnir, F., Vermeire, S., Rutgeerts, P., De Vos, M., Belaiche, J., Franchimont, D., Van Gossum, A., Louis, E., & Bours, V. (May 2007). The TNF/ADAM 17 system: implication of an ADAM 17 haplotype in the clinical response to infliximab in Crohn's disease. European Journal of Clinical Investigation, 37 (Suppl. 1), 79.

Dideberg, V., Louis, E., & Bours, V. (2007). Pharmacogenetics of infliximab in Crohn's disease. Acta Endoscopica, 37 (4), 521-530. doi:10.1007/BF02961799

Louis, E., Bours, V., Dideberg, V., & Belaiche, J. (2007). Les maladies inflammatoires chroniques intestinales : de la génétique au traitement. Revue Médicale de Liège, 62, 47-51.

Dideberg, V., Theatre, E., Farnir, F., Vermeire, S., Rutgeerts, P., Vos, M. D., Belaiche, J., Franchimont, D., Gossum, A. V., Louis, E., & Bours, V. (October 2006). The Tnf/Adam 17 System: Implication of an Adam 17 Haplotype in the Clinical Response to Infliximab in Crohn's Disease. Pharmacogenetics and Genomics, 16 (10), 727-734. doi:10.1097/01.fpc.0000230117.26581.a4

Dideberg, V., Louis, E., Farnir, F., Bertoli, S., Vermeire, S., Rutgeerts, P., De Vos, M., Van Gossum, A., Belaiche, J., & Bours, V. (May 2006). Lymphotoxin alpha gene in Crohn's disease patients: absence of implication in the response to infliximab in a large cohort study. Pharmacogenetics and Genomics, 16 (5), 369-373. doi:10.1097/01.fpc.0000204993.91806.b1

Dideberg, V., & Bours, V. (December 2005). Integration de la pharmacogenetique dans la pratique medicale. Revue Médicale de Liège, 60 (12), 918-22.

Verloes, A., Gillerot, Y., Van Maldergem, L., Schoos, R., Herens, C., Jamar, M., Dideberg, V., Lesenfants, S., & Koulischer, L. (January 2001). Major Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test? European Journal of Human Genetics, 9 (1), 1-4. doi:10.1038/sj.ejhg.5200575

Verloes, A., JAMAR, M., Dideberg, V., & Herens, C. (2001). Episphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens. Annales de Génétique, 44 (2, Apr-Jun), 59-62. doi:10.1016/S0003-3995(01)01043-7