Publications and communications of François-Guillaume DEBRAY

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

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

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.

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.

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

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.

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

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

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

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

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).

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

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.

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

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., 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., 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.

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

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

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.

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

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.

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

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.

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.

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

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.

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

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

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

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.

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.

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.

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.

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

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

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

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

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