  | Harvengt, J., Docampo Martínez, E., Jacquinet, A., Alkan, S., Martin, M., Debray, F.-G., BULK, S., & Bours, V. (12 April 2024). New paradigms in clinical geneticist practice in the era of emerging therapies: examples of two pediatric syndromes [Poster presentation]. BESHG Annual Symposium 2024.  Peer reviewed |
 | Tangeraas, T., Constante, J. R., Backe, P. H., Oyarzábal, A., Neugebauer, J., Weinhold, N., Boemer, F., Debray, F.-G., Ozturk-Hism, B., Evren, G., Tuba, E. F., Ummuhan, O., Footitt, E., Davison, J., Martinez, C., Bueno, C., Machado, I., Rodríguez-Pombo, P., Al-Sannaa, N., ... García-Cazorla, A. (03 July 2023). BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. Brain: a Journal of Neurology, 146 (7), 3003 - 3013. doi:10.1093/brain/awad010 Peer Reviewed verified by ORBi |
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. |
  | Lumaka Zola, A., Fasquelle, C., Debray, F.-G., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., VAESSEN, S., Viellevoye, R., 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 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | VALDES SOCIN, H. G., ANDRIS, C., CROMMEN, J., PETROSSIANS, P., BOURS, V., & DEBRAY, F.-G. (December 2021). It’s all in their eyes: a three-generation family with branchio-oculo-facial syndrome (BOFS) reveals a heterozygous novel mutation in TFAP2A gene. Acta Clinica Belgica, 2 (76), 27-29. Peer Reviewed verified by ORBi |
 | VALDES SOCIN, H. G., LIBIOULLE, C., PETIGNOT, S., BETEA, D., PINTIAUX, A., DIVE, D., DEBRAY, F.-G., BOURS, V., & PETROSSIANS, P. (17 September 2021). Male and female hypogonadotropic hypogonadism associated with two novel non sense heterozygous mutations of Klotho beta gene (KLB) [Poster presentation]. Belgian Society of Genetics, Bruxelles, Belgium. |
 | Meiouet, F., Kabbaj, S. E., DEBRAY, F.-G., & BOEMER, F. (2021). Diagnostic et suivi de la phénylcétonurie par LC-MS-MS au Maroc. Annales de Biologie Clinique. doi:10.1684/abc.2021.1619 Peer Reviewed verified by ORBi |
 | Lausberg, E., Gießelmann, S., Dewulf, J. P., Wiame, E., Holz, A., Salvarinova, R., van Karnebeek, C. D., Klemm, P., Ohl, K., Mull, M., Braunschweig, T., Weis, J., Sommer, C. J., Demuth, S., Haase, C., Stollbrink-Peschgens, C., DEBRAY, F.-G., LIBIOULLE, C., Choukair, D., ... Kraft, F. (2021). C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. The Journal of clinical investigation, 131 (12). doi:10.1172/JCI143078 Peer reviewed |
 | Barrea, C., JADOT, A., DEBRAY, F.-G., Vrancken, G., & Leroy, P. (2021). Comment j'explore... un trouble du spectre de l'autisme. Revue Médicale de Liège, 76 (10), 761-767. Peer reviewed |
 | Duerinckx, S., Désir, J., Perazzolo, C., Badoer, C., Jacquemin, V., Soblet, J., Maystadt, I., Tunca, Y., Blaumeiser, B., Ceulemans, B., COURTENS, W., Debray, F.-G., Destree, A., Devriendt, K., Jansen, A., Keymolen, K., Lederer, D., Loeys, B., Meuwissen, M., ... Abramowicz, M. (2021). Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. Molecular Genetics and Genomic Medicine, 9 (9). doi:10.1002/mgg3.1768 Peer Reviewed verified by ORBi |
 | van Wegberg, A. M. J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M. S., Maillot, F., van Spronsen, F. J., Ahring, K., Al Mutairi, F., Arnoux, J. B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, F., Bordugo, A., Brodosi, L., Brooks, S., ... Study Group on Missed PKU and Missed to Follow-Up. (2021). Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. Journal of Pediatrics, 239, 231 - 234.e2. doi:10.1016/j.jpeds.2021.08.070 Peer Reviewed verified by ORBi |
 | Balasubramanian, M., Dingemans, A. J. M., Albaba, S., Richardson, R., Yates, T. M., Cox, H., Douzgou, S., Armstrong, R., Sansbury, F. H., Burke, K. B., Fry, A. E., Ragge, N., Sharif, S., Foster, A., De Sandre-Giovannoli, A., Elouej, S., Vasudevan, P., Mansour, S., Wilson, K., ... Kleefstra, T. (2021). Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4), 625 - 636. doi:10.1038/s41431-020-00769-7 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Seyssel, K., FADEUR, M., Tappy, L., Paquot, N., & Tran, C. (2021). Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance. Clinical Nutrition, 40 (6), 4246-4254. doi:10.1016/j.clnu.2021.01.026 Peer Reviewed verified by ORBi |
 | Debray, F.-G., WEEKERS, L., Dadoumont, C., Grandjean, C., DEBERG, M., Boemer, F., & Bours, V. (2020). Actualités thérapeutiques dans les erreurs innées du métabolisme. Revue Médicale de Liège, 75 (5-6), 420-425. |
 | BARREA, C., LEROY, P., DEBRAY, F.-G., ALKAN, S., & Rousselle, L. (2020). Comment j’explore… Un trouble du développement intellectuel chez l'enfant. Revue Médicale de Liège, 75 (10), 686-691. Peer reviewed |
 | 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 Peer Reviewed verified by ORBi |
 | BARREA, C., DEBRAY, F.-G., SIMON, M., & LEROY, P. (2020). Comment j’explore… Une pathologie organique à l’origine d’un trouble pédopsychiatrique. Revue Médicale de Liège, 75 (1). Peer reviewed |
 | Simons, N., Debray, F.-G., Schaper, N. C., Feskens, E. J. M., Hollak, C. E. M., Bons, J. A. P., Bierau, J., Houben, A. J. H. M., Schalkwijk, C. G., Stehouwer, C. D. A., Cassiman, D., & Brouwers, M. C. G. J. (2020). Kidney and vascular function in adult patients with hereditary fructose intolerance. Molecular Genetics and Metabolism Reports, 23, 100600. doi:10.1016/j.ymgmr.2020.100600 Peer Reviewed verified by ORBi |
 | Heard, J.-M., Vrinten, C., Schlander, M., Bellettato, C. M., van Lingen, C., Scarpa, M., & Debray, F.-G. (Other coll.). (2020). Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network. Orphanet Journal of Rare Diseases, 15 (1), 3. doi:10.1186/s13023-019-1280-5 Peer Reviewed verified by ORBi |
 | van Rijt, W. J., Jager, E. A., Allersma, D. P., Aktuğlu Zeybek, A. Ç., Bhattacharya, K., Debray, F.-G., Ellaway, C. J., Gautschi, M., Geraghty, M. T., Gil-Ortega, D., Larson, A. A., Moore, F., Morava, E., Morris, A. A., Oishi, K., Schiff, M., Scholl-Bürgi, S., Tchan, M. C., Vockley, J., ... Derks, T. G. J. (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine : official journal of the American College of Medical Genetics, 22 (5), 908-916. doi:10.1038/s41436-019-0739-z Peer reviewed |
 | 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. |
| VALDES SOCIN, H. G., LIBIOULLE, C., LEBRETHON, M.-C., CORMAN, V., DEBRAY, F.-G., DIDEBERG, V., & Beckers, A. (2019). Normosmic hypogonadotropic hypogonadism associated with a novel TACR3 mutation. In Endocrine Abstracts - ECE 2019. |
 | Simons, N., DEBRAY, F.-G., Schaper, N. C., Kooi, M. E., Feskens, E. J. M., Hollak, C. E. M., Lindeboom, L., Koek, G. H., Bons, J. A. P., Lefeber, D. J., Hodson, L., Schalkwijk, C. G., Stehouwer, C. D. A., Cassiman, D., & Brouwers, M. C. G. J. (2019). Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content. Journal of Clinical Endocrinology and Metabolism, 104 (11), 5056-5064. doi:10.1210/jc.2018-02795 Peer Reviewed verified by ORBi |
 | Heard, J.-M., Bellettato, C., van Lingen, C., Scarpa, M., & DEBRAY, F.-G. (Other coll.). (2019). Research activity and capability in the European reference network MetabERN. Orphanet Journal of Rare Diseases, 14 (1), 119. doi:10.1186/s13023-019-1091-8 Peer Reviewed verified by ORBi |
 | Cardenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zurcher, N. R., Hadjikhani, N., Beckmann, J. S., Reymond, A., Draganski, B., Jacquemont, S., Collins, D. L., CABERG, J.-H. (Other coll.), & DEBRAY, F.-G. (Other coll.). (2019). Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations. NeuroImage, 203, 116155. doi:10.1016/j.neuroimage.2019.116155 Peer Reviewed verified by ORBi |
 | Jonch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., Richetin, S., Pain, A., Genevieve, D., Kini, U., Le Caignec, C., Lespinasse, J., Skytte, A.-B., Isidor, B., Zweier, C., ... DEBRAY, F.-G. (Other coll.). (2019). Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of Medical Genetics, 56 (10), 701-710. doi:10.1136/jmedgenet-2018-105879 Peer Reviewed verified by ORBi |
 | VALDES SOCIN, H. G., LIBIOULLE, C., Tsjoen, G., DEBRAY, F.-G., Bours, V., & Beckers, A. (September 2018). TAC3 et TACR3 impliqués dans l'hypogonadisme hypogonadotrope normosmique : description de trois patients avec des 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., 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., 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. Peer reviewed |
 | 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. |
 | Martin-Brevet, S., Rodriguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jonch, A. E., Qureshi, A. Y., Zurcher, N. R., Conus, P., Chung, W. K., Sherr, E. H., Spiro, J. E., Kherif, F., Beckmann, J. S., Hadjikhani, N., Reymond, A., ... DEBRAY, F.-G. (Other coll.). (2018). Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biological Psychiatry. doi:10.1016/j.biopsych.2018.02.1176 |
 | Ruaud, L., Rice, G. I., Cabrol, C., Piard, J., Rodero, M., van Eyk, L., Boucher-Brischoux, E., MAERTENS DE NOORDHOUT, A., Mare, R., Scalais, E., Pauly, F., DEBRAY, F.-G., Dobyns, W., Uggenti, C., Park, J. W., Hur, S., Livingston, J. H., Crow, Y. J., & Van Maldergem, L. (2018). Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Human Mutation, 39 (8), 1076-1080. doi:10.1002/humu.23554 Peer Reviewed verified by ORBi |
 | Bruun, T. U. J., Sidky, S., Bandeira, A. O., DEBRAY, F.-G., Ficicioglu, C., Goldstein, J., Joost, K., Koeberl, D. D., Luisa, D., Nassogne, M.-C., O'Sullivan, S., Ounap, K., Schulze, A., van Maldergem, L., Salomons, G. S., & Mercimek-Andrews, S. (2018). Treatment outcome of creatine transporter deficiency: international retrospective cohort study. Metabolic Brain Disease, 33 (3), 875-884. doi:10.1007/s11011-018-0197-3 Peer Reviewed verified by ORBi |
 | Rice, G. I., Meyzer, C., Bouazza, N., Hully, M., Boddaert, N., Semeraro, M., Zeef, L. A. H., Rozenberg, F., Bondet, V., Duffy, D., Llibre, A., Baek, J., Sambe, M. N., Henry, E., Jolaine, V., Barnerias, C., Barth, M., Belot, A., Cances, C., ... Crow, Y. J. (2018). Reverse-Transcriptase Inhibitors in the Aicardi-Goutieres Syndrome. New England Journal of Medicine, 379 (23), 2275-7. doi:10.1056/NEJMc1810983 Peer Reviewed verified by ORBi |
 | 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. |
 | DEBRAY, F.-G., DAMJANOVIC, K., ROSSET, R., MITTAZ-CRETOL, L., ROUX, C., BRAISSANT, O., BARBEY, F., BONAFE, L., DE BANDT, J.-P., TAPPY, L., PAQUOT, N., & TRAN, C. (2018). Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? American Journal of Clinical Nutrition, 108, 1-8. doi:10.1093/ajcn/nqy092 Peer Reviewed verified by ORBi |
 | 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. |
 | DELANNOY, P., Debray, F.-G., Verloes, A., Beckers, A., & VALDES SOCIN, H. G. (2017). How to recognize Cowden syndrome: A novel PTEN mutation description. Annales d'Endocrinologie. doi:10.1016/j.ando.2017.01.001 Peer Reviewed verified by ORBi |
 | Van Maldergem, L., Besse, A., De Paepe, B., Blakely, E. L., Appadurai, V., Humble, M. M., Piard, J., Craig, K., He, L., Hella, P., Debray, F.-G., Martin, J.-J., Gaussen, M., Laloux, P., Stevanin, G., Van Coster, R., Taylor, R. W., Copeland, W. C., Mormont, E., & Bonnen, P. E. (2017). POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Annals of Clinical and Translational Neurology, 4 (1), 4-14. doi:10.1002/acn3.361 Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Moortgat, S., Berland, S., Aukrust, I., Maystadt, I., Baker, L., Benoit, V., Caro-Llopis, A., Cooper, N. S., Debray, F.-G., Faivre, L., Gardeitchik, T., Haukanes, B. I., Houge, G., Kivuva, E., Martinez, F., Mehta, S. G., Nassogne, M.-C., Powell-Hamilton, N., Pfundt, R., ... Newbury-Ecob, R. A. (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. doi:10.1038/s41431-017-0038-6 Peer Reviewed verified by ORBi |
 | Saintmard, G., Brands, G., Debray, F.-G., & Lognard, M. (2017). Faiblesse progressive des membres inferieurs revelatrice d'une dystrophie musculaire des ceintures. Revue Médicale de Liège, 72 (7-8), 373-376. Peer reviewed |
| 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. |
| 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., VERLOES, A., Debray, F.-G., LIBIOULLE, C., Pintiaux, A., Maquet, P., & Beckers, A. (2016). Le syndrome de De Morsier : une cause congénitale méconnue d'hypopituitarisme. In Annales d'Endocrinologie : 33ème congrès de la Société Française d'Endocrinologie. |
 | HENNUY, N., NYAMUGABO MUNYERE NKANA, K., FLORKIN, B., Malfait, F., DEBRAY, F.-G., & Seghaye, M.-C. (March 2016). Genetics 2 Multiple fractures, genetics to the rescue! Belgian Journal of Paediatrics, 18 (1), 63. Peer Reviewed verified by ORBi |
 | 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. |
 | BOEMER, F., DEBERG, M., SCHOOS, R., CABERG, J.-H., GAILLEZ, S., Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., & DEBRAY, F.-G. (2016). Diagnostic pitfall in antenatal manifestations of CPT II deficiency. Clinical Genetics. doi:10.1111/cge.12593 Peer Reviewed verified by ORBi |
 | 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. |
| Potorac, I., Chachati, A.-S., Debray, F.-G., VALDES SOCIN, H. G., Pirard, F., Pintiaux, A., & Beckers, A. (2015). Nouvelle mutation du Fibroblast Growth Factor Receptor 1 (FGFR1)-cause d'hypogonadisme hypogonadotrope idiopathique normosmique. In Abstract book- Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie. |
| 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. |
 | Dachy, A., Paquot, F., Debray, F.-G., Bovy, C., Christensen, E. I., Collard, L., & Jouret, F. (2015). In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. Pediatric Nephrology, 30 (6), 1027-31. doi:10.1007/s00467-014-3037-7 Peer Reviewed verified by ORBi |
 | Simons, C., Rash, L. D., Crawford, J., Ma, L., Cristofori-Armstrong, B., Miller, D., Ru, K., Baillie, G. J., Alanay, Y., JACQUINET, A., DEBRAY, F.-G., Verloes, A., Shen, J., Yesil, G., Guler, S., Yuksel, A., Cleary, J. G., Grimmond, S. M., McGaughran, J., ... Taft, R. J. (2015). Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 (3), 304. Peer Reviewed verified by ORBi |
 | 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 Peer Reviewed verified by ORBi |
 | Mansour-Hendili, L., Blanchard, A., Le Pottier, N., Roncelin, I., Lourdel, S., Treard, C., Gonzalez, W., Vergara-Jaque, A., Morin, G., Colin, E., Holder-Espinasse, M., Bacchetta, J., Baudouin, V., Benoit, S., Berard, E., Bourdat-Michel, G., Bouchireb, K., Burtey, S., Cailliez, M., ... Vargas-Poussou, R. (2015). Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Human Mutation, 36 (8), 743-52. doi:10.1002/humu.22804 Peer Reviewed verified by ORBi |
 | Simons, C., Rash, L. D., Crawford, J., Ma, L., Cristofori-Armstrong, B., Miller, D., Ru, K., Baillie, G. J., Alanay, Y., JACQUINET, A., Debray, F.-G., Verloes, A., Shen, J., Yesil, G., Guler, S., Yuksel, A., Cleary, J. G., Grimmond, S. M., McGaughran, J., ... Taft, R. J. (2015). Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 (1), 73-7. doi:10.1038/ng.3153 Peer Reviewed verified by ORBi |
 | DARON, A., DRESSE, M.-F., Hoyoux, C., Tebache, M., MISSON, J.-P., & DEBRAY, F.-G. (2015). Schizencephaly associated with a severe prothrombotic syndrome caused by antithombin III deficiency. Tijdschrift van de Belgische Kinderarts, 17 (1), 109. Peer reviewed |
 | Kaux, J.-F., Delvaux, F., Forthomme, B., FOIDART-DESSALLE, M., Debray, F.-G., Crielaard, J.-M., & Croisier, J.-L. (April 2014). Eccentric training for elbow hypermobility. British Journal of Sports Medicine, 48 (7), 154. doi:10.1136/bjsports-2014-093494.154 Peer Reviewed verified by ORBi |
| Chachati, A.-S., Potorac, I., DEBRAY, F.-G., VALDES SOCIN, H. G., Pirard, F., Daly, A., & Beckers, A. (2014). Novel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism. In Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris. |
 | 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 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Seneca, S., GONCE, M., Vancampenhaut, K., Bianchi, E., BOEMER, F., WEEKERS, L., Smet, J., & Van Coster, R. (2014). Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. Mitochondrion. doi:10.1016/j.mito.2014.06.003 Peer Reviewed verified by ORBi |
 | Feillet, F., Muntau, A. C., DEBRAY, F.-G., Lotz-Havla, A. S., Puchwein-Schwepcke, A., Fofou-Caillierez, M. A. B., van Spronsen, F., & Trefz, F. F. (2014). Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. Journal of Inherited Metabolic Disease. doi:10.1007/s10545-014-9716-5 Peer Reviewed verified by ORBi |
| DELANNOY, P., DEBRAY, F.-G., BECKERS, A., & VALDES SOCIN, H. G. (2014). Cowden Syndrome: a novel PTEN mutation description and how to recognize a not so rare hereditary cancer syndrome. Acta Clinica Belgica, 69 (suppl 3), 16. Peer Reviewed verified by ORBi |
 | VALDES SOCIN, H. G., Rubio Almanza, M., Tome Fernandez-Ladreda, M., Debray, F.-G., Bours, V., & Beckers, A. (2014). Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. Frontiers in Endocrinology, 5, 109. doi:10.3389/fendo.2014.00109 Peer Reviewed verified by ORBi |
 | BOEMER, F., SCHOOS, R., de HALLEUX, V., Kalenga, M., & DEBRAY, F.-G. (2014). Surprising causes of C5-carnitine false positive results in newborn screening. Molecular Genetics and Metabolism, 111 (1), 52-4. doi:10.1016/j.ymgme.2013.11.005 Peer Reviewed verified by ORBi |
 | Jacquinet, A., Verloes, A., Callewaert, B., Coremans, C., Coucke, P., de Paepe, A., Kornak, U., Lebrun, F., Lombet, J., Pierard, G., Robinson, P. N., Symoens, S., Van Maldergem, L., & Debray, F.-G. (2014). Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. European Journal of Medical Genetics, 57 (5), 230-4. doi:10.1016/j.ejmg.2014.02.012 Peer Reviewed verified by ORBi |
| Chachati, A.-S., Potorac, I., DEBRAY, F.-G., VALDES SOCIN, H. G., Pirard, F., Daly, A., & Beckers, A. (2013). Novel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism. In 23rd meeting of the Belgian Endocrine Society - Abstract book. Peer reviewed |
| BOEMER, F., SCHOOS, R., ACQUAVIVA, C., VIANEY-SABAN, C., WEEKERS, L., & DEBRAY, F.-G. (September 2013). HETEROGENOUS CLINICAL AND LABORATORY PRESENTATIONS IN MAD DEFICIENCY [Poster presentation]. 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain. |
 | Kaux, J.-F., Forthomme, B., Foidart-Dessalle, M., Delvaux, F., Debray, F.-G., Crielaard, J.-M., & Croisier, J.-L. (August 2013). Eccentric rehabilitation for elbow hypermobility. Journal of Novel Physiotherapies, 3 (6), 180 (5. doi:10.4172/2165-7025.1000180 Peer Reviewed verified by ORBi |
 | 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. |
JACQUINET, A., CABERG, J.-H., BOURS, V., & DEBRAY, F.-G. (June 2013). Intellectual disability and cancer susceptibility in a family with inherited 14q32.13q32.2 deletion [Poster presentation]. European Society of Human Genetics 2013, Paris, France. |
| SEGERS, K., CABERG, J.-H., JACQUINET, A., & DEBRAY, F.-G. (15 March 2013). Homozygosity mapping in clinical setting : a usefull method in workup of patients born to consanguineous parents presenting with an heterogeneous autosomal recessive disorder [Poster presentation]. 13° Belgian Society of Human Genetics Meeting, Bruxelles, Belgium. |
 | Debray, F.-G., Baguette, C., Colinet, S., Van Maldergem, L., & Verellen-Dumouin, C. (2013). Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy. Molecular Genetics and Metabolism, 109 (2), 227-9. doi:10.1016/j.ymgme.2013.04.011 Peer Reviewed verified by ORBi |
 | SEGERS, K., PIERQUIN, G., GAILLEZ, S., Delbecque, K., Retz, M., Tebache, M., Waterham, H., Wanders, R., Ferdinandusse, S., & DEBRAY, F.-G. (2013). Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. Prenatal Diagnosis, 33 (2), 201-3. doi:10.1002/pd.4038 Peer Reviewed verified by ORBi |
 | El Chehadeh-Djebbar, S., Blair, E., Holder-Espinasse, M., Moncla, A., Frances, A.-M., Rio, M., Debray, F.-G., Rump, P., Masurel-Paulet, A., Gigot, N., Callier, P., Duplomb, L., Aral, B., Huet, F., Thauvin-Robinet, C., & Faivre, L. (2013). Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. European Journal of Human Genetics, 21 (7), 736-42. doi:10.1038/ejhg.2012.251 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., de Halleux, V., GUIDI, O., DETREMBLEUR, N., GAILLEZ, S., Rausin, L., Goyens, P., Pan, X., & Whitington, P. F. (2012). Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease. Pediatrics, 129 (4), 1076-9. doi:10.1542/peds.2011-0568 Peer Reviewed verified by ORBi |
 | Schiff, M., Broue, P., Chabrol, B., De Laet, C., Habes, D., Mention, K., Sarles, J., Spraul, A., Valayannopoulos, V., Ogier de Baulny, H., & DEBRAY, F.-G. (Other coll.). (2012). Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. Journal of Inherited Metabolic Disease, 35 (5), 823-9. doi:10.1007/s10545-011-9429-y Peer Reviewed verified by ORBi |
 | Stephenne, X., DEBRAY, F.-G., Smets, F., Jazouli, N., Sana, G., Tondreau, T., Menten, R., Goffette, P., BOEMER, F., Schoos, R., Gersting, S. W., Najimi, M., Muntau, A. C., Goyens, P., & Sokal, E. M. (2012). Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria. Cell Transplantation, 21 (12), 2765-70. doi:10.3727/096368912X653255 Peer Reviewed verified by ORBi |
 | 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. |
| SEGERS, K., Debray, F.-G., Wuyts, W., Benoit, V., & Bours, V. (04 March 2011). Co-Occurence of two rare autosomal recessive syndromes in a young patient [Poster presentation]. 11° Belgian Society of Human Genetics Meeting, Louvain-la-Neuve, Belgium. |
JACQUINET, A., STEVENS, R., DEMONCEAU, N., CABERG, J.-H., MENTEN, B., & DEBRAY, F.-G. (March 2011). MBD5 deletion: a new recurrent cause of mental retardation [Poster presentation]. 39th Annual Meeting of The Belgian Society of Pediatrics, Bruxelles, Belgium. |
JACQUINET, A., STEVENS, R., DEMONCEAU, N., LEROY, P., MISSON, J.-P., & DEBRAY, F.-G. (March 2011). Type II GM1 gangliosidosis presenting as isolated psychomotor regression [Poster presentation]. Annual Meeting of The Belgian Society of Pediatrics, Bruxelles, Belgium. |
 | Debray, F.-G., Lefebvre, C., Colinet, S., Segers, K., & Stevens, R. (2011). Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. Journal of Pediatrics, 158 (1), 165, 165.e1. doi:10.1016/j.jpeds.2010.06.057 Peer Reviewed verified by ORBi |
 | 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. Peer reviewed |
 | DEBRAY, F.-G., Morin, C., Janvier, A., Villeneuve, J., Maranda, B., Laframboise, R., LACROIX, J., Decarie, J. C., Robitaille, Y., Robinson, B. H., & Mitchell, G. A. (2011). LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Journal of Medical Genetics. doi:10.1136/jmg.2010.081976 Peer Reviewed verified by ORBi |
 | Ameloot, K., Vlasselaers, D., Meersseman, W., Desmet, L., Vanhaecke, J., Vermeer, N., Meyns, B., Pirenne, J., Cassiman, D., De Laet, C., Goyens, P., Malekzadeh-Milan, S. G., Biarent, D., Meulemans, A., & DEBRAY, F.-G. (2011). Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock. Journal of Pediatrics. doi:10.1016/j.jpeds.2010.12.031 Peer Reviewed verified by ORBi |
 | 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. |
 | Debray, F.-G., Lambert, M.-H., Allard, P., & Mitchell, G. A. (2010). Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. Journal of Child Neurology, 25 (8), 1000-2. doi:10.1177/0883073809351983 Peer Reviewed verified by ORBi |
 | Jacquinet, A., Gerard, M., Gabbett, M. T., Rausin, L., Misson, J.-P., Menten, B., Mortier, G., Van Maldergem, L., Verloes, A., & Debray, F.-G. (2010). Temple-Baraitser syndrome: a rare and possibly unrecognized condition. American Journal of Medical Genetics. Part A, 152A (9), 2322-6. doi:10.1002/ajmg.a.33574 Peer Reviewed verified by ORBi |
 | VALDES SOCIN, H. G., Debray, F.-G., Parent, A.-S., Lebrethon, M.-C., Bourguignon, J.-P., Bours, V., & Beckers, A. (2010). Comment j'EXPLORE ... un hypogonadisme hypogonadotrope congenital isole. Revue Médicale de Liège, 65 (11), 634-41. Peer reviewed |
 | Kaux, J.-F., Foidart-Dessalle, M., Debray, F.-G., Forthomme, B., Crielaard, J.-M., & Croisier, J.-L. (2009). Programme excentrique dans le traitement de l’hyperlaxité du coude. In J.-L. Croisier & P. Codine (Eds.), Exercice musculaire excentrique (pp. 78-85). Paris, France: Masson. Peer reviewed |
 | Kaux, J.-F., Le Goff, C., Debray, F.-G., Crielaard, J.-M., & Reginster, J.-Y. (2009). Le cas clinique du mois. Osteogenesis imperfecta. Revue Médicale de Liège. Peer reviewed |
 | Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., Boute, O., Perveen, R., Law, C., Moore, A., Fitzpatrick, D., Lemke, J., Fellmann, F., ... Black, G. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17 (10), 1325-35. doi:10.1038/ejhg.2009.52 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Lambert, M., Lemieux, M., Soucy, J. F., Drouin, R., Fenyves, D., Dubé, J., Marranda, B., Laframboise, R., & Mitchell, G. A. (2008). Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. Journal of Medical Genetics, 45 (11), 759-764. doi:10.1136/jmg.2008.059097 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Lambert, M., Gagne, R., Maranda, B., Laframboise, R., MacKay, N., Ribonson, B. H., & Mitchell, G. A. (2008). Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics, 39 (1), 20-23. doi:10.1055/s-2008-1077084 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Merouani, A., Lambert, M., Brochu, P., Bernard, C., Robinson, B. H., & Mitchell, G. A. (2008). Acute tubular dysfunction wtih Fanconi syndrome : a new manifestation of mitochondrial cytopathies. American Journal of Kidney Diseases, 51 (4), 691-696. doi:10.1053/j.ajkd.2007.11.024 Peer Reviewed verified by ORBi |
 | Battisti, O., & Debray, F.-G. (2008). the ketogenic diet in infants. |
 | Debray, F.-G., Boulanger, Y., Khiat, A., Decarie, J. C., Orquin, J., Roy, M. S., Lortie, A., Ramos, F., Verhoeven, N. M., Struys, E., Blom, H. J., Jakobs, C., Levy, E., Mitchell, G. A., & Lambert, M. (2008). Reduced brain choline in homocystinuria due to remethylation defects. Neurology, 71 (1), 44-49. doi:10.1212/01.wnl.0000316391.40236.c3 Peer Reviewed verified by ORBi |
 | Debray, F.-G., Lambert, M., & Mitchell, G. A. (2008). Disorders of mitochondrial function. Current Opinion in Pediatrics, 20 (4), 471-482. doi:10.1097/MOP.0b013e328306ebb6 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Mitchell, G. A., Allard, P., Robinson, B. H., Hanley, J. A., & Lambert, M. (2007). Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clinical Chemistry, 53 (5), 916-21. doi:10.1373/clinchem.2006.081166 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Lambert, M., Lortie, A., Vanasse, M., & Mitchell, G. A. (2007). Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. American Journal of Medical Genetics. Part A, 143A (17), 2046-51. doi:10.1002/ajmg.a.31880 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Nadeau, A., D'Anjou, G., Debray, G., Robitaille, Y., Simard, L. R., & Vanasse, M. (2007). A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. Journal of Child Neurology, 22 (11), 1301-4. doi:10.1177/0883073807307105 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J.-C., Shoubridge, E. A., Robinson, B. H., & Mitchell, G. A. (2007). Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics, 119 (4), 722-733. doi:10.1542/peds.2006-1866 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Drouin, E., Herzog, D., Lortie, A., Lambert, M., Garel, L., Mitchell, G. A., & Michaud, J. L. (2006). Recurrent pancreatitis in mitochondrial cytopathy. American Journal of Medical Genetics. Part A, 140 (21), 2330-5. doi:10.1002/ajmg.a.31457 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Lambert, M., Vanasse, M., Decarie, J.-C., Cameron, J., Levandovskiy, V., Robinson, B. H., & Mitchell, G. A. (2006). Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. European Journal of Pediatrics, 165 (7), 462-466. doi:10.1007/s00431-006-0104-5 Peer Reviewed verified by ORBi |
 | DEBRAY, F.-G., Ilunga, S., Brichard, B., Chantrain, C., Scheiff, J. M., & Vermylen, C. (2005). Une forme particuliere d'anemie constitutionnelle chez un nourrisson de deux mois: l'elliptocytose. Archives de Pédiatrie, 12 (2), 163-7. doi:10.1016/j.arcped.2004.10.025 Peer Reviewed verified by ORBi |