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 |
Greene, D., Genomics England Research Consortium, Pirri, D., Frudd, K., Sackey, E., Al-Owain, M., Giese, A. P. J., Ramzan, K., Riaz, S., Yamanaka, I., Boeckx, N., Thys, C., Gelb, B. D., Brennan, P., Hartill, V., Harvengt, J., Kosho, T., Mansour, S., Masuno, M., ... Turro, E. (16 March 2023). Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature Medicine, 29 (3), 679 - 688. doi:10.1038/s41591-023-02211-z |
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 |
Desse, B., Tran, A., Butori, M., Marchal, S., Afanetti, M., Barthélemy, S., Bérard, E., Baechler, E., Debelleix, S., Lampin, M.-E., Macey, J., Massenavette, B., Harvengt, J., Trang, H., & Giovannini-Chami, L. (31 August 2022). ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge. Frontiers in Pediatrics, 10. doi:10.3389/fped.2022.910099 |
WARNIER, H., BARREA, C., BETHLEN, S., SCHROUFF, I., & HARVENGT, J. (23 April 2022). Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review. Orphanet Journal of Rare Diseases, 17 (1), 174. doi:10.1186/s13023-022-02323-8 |
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 |
HARVENGT, J., ALKAN, S., Florkin, B., BULK, S., & Bours, V. (June 2020). POP1-Skeletal dysplasias : description of two new families [Poster presentation]. European Human Genetics Virtual Conference 2020. |
HARVENGT, J., GERNAY, C., Mastouri, M., FARHAT, N., LEBRETHON, M.-C., Seghaye, M.-C., & Bours, V. (2020). ROHHAD(NET) Syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis. Journal of Clinical Endocrinology and Metabolism. doi:10.1210/clinem/dgaa247 |
Rice, G. I., DEBRAY, F.-G., HARVENGT, J., BARREA, C., & Crow, Y. (2020). Genetic and phenotypic spectrum associated with IFIH1 gain-of-function. Human Mutation. doi:10.1002/humu.23975 |
HARVENGT, J., Boros, E., BULK, S., & Bours, V. (15 March 2019). COL1A2 mutation in a case of isolated short stature [Poster presentation]. 19th Annual Meeting of the Belgian Society of Human Genetics, Liège, Belgium. |
JAMAR, M., HARVENGT, J., D'OTREPPE DE BOUVETTE, S., Florkin, B., & MENTEN, C. (September 2018). Diagnostic moléculaire par CGH-array + SNP d'un cas d'Anémie de Fanconi [Poster presentation]. XXIVe Colloque Association des Cytogénéticiens de Langue Française (ACLF), Saint-Malo, France. |
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. |
BARREA, C., VAESSEN, S., BULK, S., HARVENGT, J., & Misson, J.-P. (2018). Phenotype-genotype correlation in children with neurofibromatosis type 1. Neuropediatrics. doi:10.1055/s-0037-1620239 |
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. |
HARVENGT, J., Schierloh, U., BULK, S., & PIERQUIN, G. (16 February 2018). Post axial polydactyly : isolated symptom or part of a syndrome. A case of BBS8 with two novel molecular anomalies [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
HARVENGT, J., DEBRAY, F.-G., LEBRETHON, M.-C., BOURGUIGNON, J.-P., & RICHELLE, C. (2011). Comment j'explore les hypoglycémies chez l'enfant : à propos de deux cas. Revue Médicale de Liège, 66 (12), 631-635. |
HARVENGT, J., Retz, M.-C., Foidart, J.-M., Bourguignon, J.-P., & LEBRETHON, M.-C. (2011). De l'utilité d'une consultation conjointe de gynécologie- endocrinologie pédiatrique : étude rétrospective des motifs de consultation et approche pratique. Revue Médicale de Liège, 66 (11), 581-8. |