| Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function GI Rice, S Park, F Gavazzi, LA Adang, LA Ayuk, L Van Eyck, L Seabra, ... Human mutation 41 (4), 837-849, 2020 | 72 | 2020 |
| ROHHAD (NET) syndrome: systematic review of the clinical timeline and recommendations for diagnosis and prognosis J Harvengt, C Gernay, M Mastouri, N Farhat, MC Lebrethon, MC Seghaye, ... The Journal of Clinical Endocrinology & Metabolism 105 (7), 2119-2131, 2020 | 47 | 2020 |
| Phenotype–genotype correlation in children with neurofibromatosis type 1 C Barrea, S Vaessen, S Bulk, J Harvengt, JP Misson Neuropediatrics 49 (03), 180-184, 2018 | 27 | 2018 |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies D Greene, Genomics England Research Consortium, D Pirri, K Frudd, ... Nature Medicine 29 (3), 679-688, 2023 | 21 | 2023 |
| Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications J Harvengt, P Boizeau, D Chevenne, D Zenaty, A Paulsen, D Simon, ... European Journal of Endocrinology 172 (6), 715-723, 2015 | 21 | 2015 |
| Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review H Warnier, C Barrea, S Bethlen, I Schrouff, J Harvengt Orphanet Journal of Rare Diseases 17 (1), 174, 2022 | 10 | 2022 |
| Rapid whole genome sequencing diagnoses and guides treatment in critically ill children in Belgium in less than 40 hours A Lumaka, C Fasquelle, FG Debray, S Alkan, A Jacquinet, J Harvengt, ... International Journal of Molecular Sciences 24 (4), 4003, 2023 | 8 | 2023 |
| Novel loss of function variant in BCKDK causes a treatable developmental and epileptic encephalopathy F Boemer, C Josse, G Luis, E Di Valentin, J Thiry, C Cello, JH Caberg, ... International Journal of Molecular Sciences 23 (4), 2253, 2022 | 6 | 2022 |
| ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge B Desse, A Tran, M Butori, S Marchal, M Afanetti, S Barthélemy, E Bérard, ... Frontiers in Pediatrics 10, 910099, 2022 | 4 | 2022 |
| Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease J Harvengt, C Wanty, B De Paepe, C Sempoux, N Revencu, J Smet, ... Molecular Genetics and Metabolism Reports 1, 223-231, 2014 | 3 | 2014 |
| Heredity and cancer E Docampo, M Martin, M Gangolf, J Harvengt, S Bulk, K Segers, N Leroi, ... Revue Medicale de Liege 76 (5-6), 327-336, 2021 | 2 | 2021 |
| The usefulness of combined gynecologic and endocrinologic consultation in pediatrics: a retrospective study of the reasons for consultation and the practical approach J Harvengt, MC Retz, JM Foidart, JP Bourguignon, MC Lebrethon Revue Medicale de Liege 66 (11), 581-588, 2011 | 2 | 2011 |
| Comment j'explore les hypoglycémies chez l'enfant: à propos de deux cas J HARVENGT, FG DEBRAY, MC LEBRETHON, JP BOURGUIGNON, ... Revue Médicale de Liège 66 (12), 2011 | 2 | 2011 |
| HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome J Harvengt, A Lumaka, L Palmeira, V Bours Frontiers in Genetics 14, 1137767, 2023 | 1 | 2023 |
| Genetic association analysis of 269 rare diseases reveals novel aetiologies D Greene, Genomics England Research Consortium, D Pirri, K Frudd, ... medRxiv, 2022.06. 10.22276270, 2022 | 1 | 2022 |
| Links between exercise-induced asthma and allergies in children: Should we pay a little more attention to children who are breathless to the effort? K Kefala, C Hebette, C Castigliano, M Fonteyn, J Harvengt, MC Seghaye European Respiratory Journal 48 (suppl 60), 2016 | 1 | 2016 |
| Hyperphagia and Genetic Obesity, a growing concern in daily practice. Genetic testing–when to prescribe? J Harvengt 33rd Meeting of the Belgian Endocrine Society, 2023 | | 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 J Harvengt, M Hannon Tempo Médical, 2023 | | 2023 |
| Ciliary videomicroscopy at room temperature lacks sensitivity for PCD diagnosis C KEMPENEERS, N Bricmont, R Bonhiver, F GUISSARD, O HOUGRAND, ... Congress of the BVK-SBP, 2022 | | 2022 |
| Hérédité et cancer. E DOCAMPO MARTINEZ, M MARTIN, M GANGOLF, J HARVENGT, ... Revue Médicale de Liège 76 (5-6), 2021 | | 2021 |
