Publications and communications of Julie Harvengt

Harvengt, J. (20 October 2023). Hyperphagia and Genetic Obesity, a growing concern in daily practice. Genetic testing – when to prescribe ? [Paper presentation]. 33rd Meeting of the Belgian Endocrine Society, La Hulpe, Belgium.

Harvengt, J., & Hannon, M. (2023). Genetics of severe early-onset obesity: diagnosis of monogenic etiologies as a new paradigm and challenge in the era of new anti-obesity therapies. Tempo Médical.

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

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.

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

KEMPENEERS, C., Bricmont, N., Bonhiver, R., GUISSARD, F., HOUGRAND, O., DELVENNE, P., JACQUINET, A., HARVENGT, J., DOCAMPO MARTINEZ, E., BOURS, V., Benchimol, L., POIRRIER, A.-L., LEFEBVRE, P., CALMES, D., LOUIS, R., & SEGHAYE, M.-C. (17 March 2022). Ciliary videomicroscopy at room temperature lacks sensitivity for PCD diagnosis [Poster presentation]. Congress of the BVK-SBP, Brussels, Belgium.

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.

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

DOCAMPO MARTINEZ, E., MARTIN, M., GANGOLF, M., HARVENGT, J., BULK, S., SEGERS, K., LEROI, N., LETE, C., PALMARICCIOTTI, V., Freire Chadrina, M., LAMBERT, F., & Bours, V. (2021). Hérédité et cancer. Revue Médicale de Liège, 76 (5-6), 327-336.

FUDVOYE, J., MALAISE, O., Moline, S., & HARVENGT, J. (January 2021). OSTEOPOROSE SECONDAIRE EN PEDIATRIE : Recommandations [Paper presentation]. Réunion MARGOS (maladies rares génétiques et osseuses).

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., 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.

HARVENGT, J., boizeau, P., chevenne, D., zenaty, D., paulsen, A., simon, D., guilmin-crepon, S., alberti, C., carel, J.-C., & léger, J. (June 2015). Triiodothyronine-predominant Graves’ disease in childhood: detection and therapeutic implications. European Journal of Endocrinology, 172 (6), 715-723. doi:10.1530/EJE-14-0959

Barrea, C., HARVENGT, J., LEBRETHON, M.-C., Poirrier, R., & Seghaye, M.-C. (January 2015). JAWAC evolving technologies to study sleep disturbance in obese adolescents - a preliminary study. Tijdschrift van de Belgische Kinderarts, 17 (1), 107.

DEWANDRE, A.-C., HARVENGT, J., LAGASSE, C., PARENT, A.-S., BOURGUIGNON, J.-P., Seghaye, M.-C., Cloes, M., & LEBRETHON, M.-C. (January 2015). Promotion of physical activity among children and adolescents followed for overweight or obesity in. Tijdschrift van de Belgische Kinderarts, 17 (1), 40.

Guffins, A., HARVENGT, J., LUYCKX, F., ANDRIS, C., Seghaye, M.-C., & LEBRETHON, M.-C. (January 2015). Autoimmune thyroid diseases in early childhood three case reports. Tijdschrift van de Belgische Kinderarts, 17 (1), 41.

HARVENGT, J., wanty, C., De Paepe, B., Sempoux, C., Revencu, N., Smet, J., VanCoster, R., Lissens, W., Seneca, S., WEEKERS, L., Sokal, E., & DEBRAY, F.-G. (2014). Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease. Molecular Genetics and Metabolism Reports. doi:10.1016/j.ymgmr.2014.04.006

HARVENGT, J., Wanty, C., Lissens, W., Seneca, S., revencu, N., sokal, E., & Debray, F.-G. (14 June 2013). Multiple pitfalls in the diagnosis of a complex liver disease [Paper presentation]. Metabolics.be.

HARVENGT, J., de HALLEUX, V., GUIDI, O., Rausin, L., DETREMBLEUR, N., Goyens, P., GAILLEZ, S., & Debray, F.-G. (19 March 2011). Neonatal cirrhosis without iron overload: congenital alloimmune hepatitis [Paper presentation]. Société belge de pédiatrie, Bruxelles, 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.

HARVENGT, J., LEBRETHON, M.-C., leroy, P., SEGHAYE, M.-C., goyens, P., & Debray, F.-G. (March 2010). HYPERINSULINISM-HYPERAMMONEMIA: AN UNUSUAL CAUSE OF HYPOKETOTIC HYPOGLYCEMIA [Poster presentation]. Société belge de pédiatrie.

HARVENGT, J., poskin, J., etienne, I., Misson, J.-P., & guidi, O. (March 2009). Glucose-galactose transporter DEFICIENCY: a diagnosis based on clinical observations [Poster presentation]. société belge de pédiatrie.