Chatelain, C., KUKOR, L., BULK, S., Bours, V., & Docampo Martínez, E. (12 April 2024). SKI missense variant c.539C>T p.(Thr180Met), a recurrent variant in Shprintzen-Goldberg syndrome: a case report and review of literature [Poster presentation]. Annual Symposium : Single cells, to care or not to care?, Leuven, Belgium. |
![]() ![]() | 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. ![]() |
![]() ![]() | Lehane, F., Von Frenckell, C., Docampo Martínez, E., Ribbens, C., & Malaise, O. (March 2023). Fibromyalgia …
But does your liver agree with this diagnosis? [Paper presentation]. Bone Curriculum Symposium 2023. ![]() |
![]() ![]() | Mina, M., JACQUERIE, P., Docampo Martínez, E., & Malaise, O. (September 2022). Z-score at +4.4 … Perfect is the enemy of good [Paper presentation]. Belgian Congress of Rheumatology. ![]() |
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. ![]() |
![]() ![]() | 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. ![]() |
![]() ![]() | DOCAMPO MARTINEZ, E., MARTIN, M., Marnette, J., & Bours, V. (06 March 2020). LTBP3 mutation identified in a patient with a severe valvular disease [Poster presentation]. 20th Annual Meeting of the Belgian Society of Human Genetics. |
![]() ![]() | Bryois, J., Skene, N. G., Hansen, T. F., Kogelman, L. J. A., Watson, H. J., Liu, Z., Brueggeman, L., Breen, G., Bulik, C. M., Arenas, E., Hjerling-Leffler, J., Sullivan, P. F., & DOCAMPO MARTINEZ, E. (Other coll.). (2020). Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease. Nature Genetics, 52 (5), 482-493. doi:10.1038/s41588-020-0610-9 ![]() |
![]() ![]() | Munn-Chernoff, M. A., Johnson, E. C., Chou, Y.-L., Coleman, J. R. I., Thornton, L. M., Walters, R. K., Yilmaz, Z., Baker, J. H., Hübel, C., Gordon, S., Medland, S. E., Watson, H. J., Gaspar, H. A., Bryois, J., Hinney, A., Leppä, V. M., Mattheisen, M., Ripke, S., Yao, S., ... Agrawal, A. (2020). Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addiction Biology, 12880. doi:10.1111/adb.12880 ![]() |
![]() ![]() | Yao, S., Kuja-Halkola, R., Martin, J., Lu, Y., Lichtenstein, P., Norring, C., Birgegard, A., Yilmaz, Z., Hubel, C., Watson, H., Baker, J., Almqvist, C., Thornton, L. M., Magnusson, P. K., Bulik, C. M., Larsson, H., & DOCAMPO MARTINEZ, E. (Other coll.). (2019). Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches. Biological Psychiatry, 86 (8), 577-586. doi:10.1016/j.biopsych.2019.04.036 ![]() |
![]() ![]() | Watson, H. J., Yilmaz, Z., Thornton, L. M., Hubel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Medland, S. E., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Purves, K. L., Adan, R. A. H., Alfredsson, L., Ando, T., ... Bulik, C. M. (2019). Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nature Genetics, 51 (8), 1207-1214. doi:10.1038/s41588-019-0439-2 ![]() |
![]() ![]() | DOCAMPO MARTINEZ, E. (Other coll.). (2019). Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell, 179 (7), 1469-1482.e11. doi:10.1016/j.cell.2019.11.020 |
![]() ![]() | KUKOR, L., BERTOLI, S., Bours, V., BULK, S., & DOCAMPO MARTINEZ, E. (16 February 2018). Ehlers-Danlos syndrome in the University Hospital of Liege [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
![]() ![]() | Arthur, V. L., Shuldiner, E., Remmers, E. F., Hinks, A., Grom, A. A., Foell, D., Martini, A., Gattorno, M., Ozen, S., Prahalad, S., Zeft, A. S., Bohnsack, J. F., Ilowite, N. T., Mellins, E. D., Russo, R., Len, C., Oliveira, S., Yeung, R. S. M., Rosenberg, A. M., ... DOCAMPO MARTINEZ, E. (Other coll.). (2018). IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis. Arthritis and Rheumatology. doi:10.1002/art.40498 ![]() |
![]() ![]() | Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., Malik, R., Patsopoulos, N. A., Ripke, S., Wei, Z., Yu, D., Lee, P. H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., ... Neale, B. M. (2018). Analysis of shared heritability in common disorders of the brain. Science, 360 (6395). doi:10.1126/science.aap8757 ![]() |
![]() ![]() | Duncan, L., Yilmaz, Z., Gaspar, H., Walters, R., Goldstein, J., Anttila, V., Bulik-Sullivan, B., Ripke, S., Thornton, L. M., Hinney, A., Daly, M., Sullivan, P. F., Zeggini, E., Breen, G., Bulik, C. M., & DOCAMPO MARTINEZ, E. (Other coll.). (2017). Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa. American Journal of Psychiatry, 201716121402. doi:10.1176/appi.ajp.2017.16121402 ![]() |
![]() ![]() | Li, D., Chang, X., Connolly, J. J., Tian, L., Liu, Y., Bhoj, E. J., Robinson, N., Abrams, D., Li, Y. R., Bradfield, J. P., Kim, C. E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., ... DOCAMPO MARTINEZ, E. (Other coll.). (2017). A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Scientific Reports, 7 (1), 3847. doi:10.1038/s41598-017-01674-8 ![]() |
![]() ![]() | Hinney, A., Kesselmeier, M., Jall, S., Volckmar, A.-L., Focker, M., Antel, J., Heid, I. M., Winkler, T. W., Grant, S. F. A., Guo, Y., Bergen, A. W., Kaye, W., Berrettini, W., Hakonarson, H., Herpertz-Dahlmann, B., de Zwaan, M., Herzog, W., Ehrlich, S., Zipfel, S., ... DOCAMPO MARTINEZ, E. (Other coll.). (2017). Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Molecular Psychiatry, 22 (2), 192-201. doi:10.1038/mp.2016.71 ![]() |
![]() ![]() | Huang, H.* , Fang, M.* , Jostins, L.* , Umicevic - Mirkov, M., Boucher, G., Anderson, C. A., Andersen, V., Cleynen, I., Cortes, A., Crins, F., D'Amato, M., Deffontaine, V., Dmitrieva, J. B., DOCAMPO MARTINEZ, E., Elansary, M., Farh, K. K.-H., Franke, A., Gori, A.-S., Goyette, P., ... Barrett, J. C.*. (2017). Fine-mapping inflammatory bowel disease loci to single-variant resolution. Nature, 547 (7662), 173-178. doi:10.1038/nature22969 ![]() * These authors have contributed equally to this work. |
![]() ![]() | Huckins, L. M., Hatzikotoulas, K., Southam, L., Thornton, L. M., Steinberg, J., Aguilera-McKay, F., Treasure, J., Schmidt, U., Gunasinghe, C., Romero, A., Curtis, C., Rhodes, D., Moens, J., Kalsi, G., Dempster, D., Leung, R., Keohane, A., Burghardt, R., Ehrlich, S., ... DOCAMPO MARTINEZ, E. (Other coll.). (2017). Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. Molecular Psychiatry. doi:10.1038/mp.2017.88 ![]() |
![]() ![]() | Li, D., Chang, X., Connolly, J. J., Tian, L., Liu, Y., Bhoj, E. J., Robinson, N., Abrams, D., Li, Y. R., Bradfield, J. P., Kim, C. E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., ... DOCAMPO MARTINEZ, E. (Other coll.). (2017). Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Scientific Reports, 7 (1), 8379. doi:10.1038/s41598-017-06409-3 ![]() |
![]() ![]() | Ombrello, M. J., Arthur, V. L., Remmers, E. F., Hinks, A., Tachmazidou, I., Grom, A. A., Foell, D., Martini, A., Gattorno, M., Ozen, S., Prahalad, S., Zeft, A. S., Bohnsack, J. F., Ilowite, N. T., Mellins, E. D., Russo, R., Len, C., Hilario, M. O. E., Oliveira, S., ... Thomson, W. (2016). Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Annals of the Rheumatic Diseases. doi:10.1136/annrheumdis-2016-210324 ![]() |
Docampo Martínez, E., Fang, M., Dmitrieva, J. B., Theatre, E., Elansary, M., Mariman, R., Gori, A.-S., Mini, M., Crins, F., Coppieters, W., LOUIS, E., & Georges, M. (05 May 2015). Prioritizing likely causative genes in GWAS identified risk loci for immune-mediated inflammatory disorders using cell-type specific eQTL information [Poster presentation]. cold spring harbor laboratory THE BIOLOGY OF GENOMES. |
![]() ![]() | Ombrello, M. J., Remmers, E. F., Tachmazidou, I., Grom, A., Foell, D., Haas, J.-P., Martini, A., Gattorno, M., Ozen, S., Prahalad, S., Zeft, A. S., Bohnsack, J. F., Mellins, E. D., Ilowite, N. T., Russo, R., Len, C., Hilario, M. O. E., Oliveira, S., Yeung, R. S. M., ... Woo, P. (2015). HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proceedings of the National Academy of Sciences of the United States of America, 112 (52), 15970-5. doi:10.1073/pnas.1520779112 ![]() |
![]() ![]() | Escaramis, G., Docampo Martinez, E., & Rabionet, R. (2015). A decade of structural variants: description, history and methods to detect structural variation. Briefings in Functional Genomics, 14 (5), 305-14. doi:10.1093/bfgp/elv014 ![]() |
![]() ![]() | Almirall, M., Docampo Martinez, E., Estivill, X., & Maymo, J. (2015). Genetic characteristics of rheumatic patients developing inflammatory skin lesions induced by biologic therapy. Reumatologiá Clinica, 11 (2), 126-7. doi:10.1016/j.reuma.2014.07.007 ![]() |
![]() ![]() | Mariman, R., Coppieters, W., Elansary, M., Karim, L., Crins, F., Mni, M., Gori, A.-S., Aoun, N., Docampo Martínez, E., Dmitrieva, J. B., Fang, M., Theatre, E., Eppe, G., & Georges, M. (24 April 2014). Identification of molecular components of the host-microbiota-connectome by using "Omics Approaches" [Poster presentation]. BeMGI. |
Docampo Martínez, E., Theatre, E., Dmitrieva, J. B., Elansary, M., Mariman, R., Mni, M., Crins, F., Gori, A.-S., Fang, M., LOUIS, E., & Georges, M. (24 April 2014). Identifying Inflammatory Bowel Disease causative genes through trans-eQTLs mapping within GWAS loci [Poster presentation]. BeMGI. |
Gori, A.-S., LECUT, C., Theatre, E., Momozawa, Y., Docampo Martínez, E., Mariman, R., Dmitrieva, J. B., Elansary, M., Charloteaux, B., Defontaine, V., Mni, M., Crins, F., LOUIS, E., Georges, M., & Oury, C. (24 April 2014). Combined use of GWAS and eQTL information to identify genes controlling platelet biology [Poster presentation]. BeMGI. doi:10.13140/RG.2.1.4044.9763 |
![]() ![]() | Docampo Martinez, E., Escaramis, G., Gratacos, M., Villatoro, S., Puig, A., Kogevinas, M., Collado, A., Carbonell, J., Rivera, J., Vidal, J., Alegre, J., Estivill, X., & Rabionet, R. (2014). Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system. Pain, 155 (6), 1102-9. doi:10.1016/j.pain.2014.02.016 ![]() |
![]() ![]() | Huckins, L. M., Boraska, V., Franklin, C. S., Floyd, J. A. B., Southam, L., Sullivan, P. F., Bulik, C. M., Collier, D. A., Tyler-Smith, C., Zeggini, E., Tachmazidou, I., & Docampo Martinez, E. (Other coll.). (2014). Using ancestry-informative markers to identify fine structure across 15 populations of European origin. European Journal of Human Genetics, 22 (10), 1190-200. doi:10.1038/ejhg.2014.1 ![]() |
![]() ![]() | Boraska, V., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J., Lewis, C. M., Dedoussis, G., Dikeos, D., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., ... Maj, M. (2014). A genome-wide association study of anorexia nervosa. Molecular Psychiatry, 19 (10), 1085-94. doi:10.1038/mp.2013.187 ![]() |
![]() ![]() | Docampo Martínez, E. (2013). IDENTIFICATION OF GENETIC SUSCEPTIBILITY FACTORS FOR FIBROMYALGIA [Doctoral thesis, University of Barcelona]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/192741 |
![]() ![]() | Docampo Martinez, E., Collado, A., Escaramis, G., Carbonell, J., Rivera, J., Vidal, J., Alegre, J., Rabionet, R., & Estivill, X. (2013). Cluster analysis of clinical data identifies fibromyalgia subgroups. PLoS ONE, 8 (9), 74873. doi:10.1371/journal.pone.0074873 ![]() |
![]() ![]() | Rodriguez-Revenga, L., Madrigal, I., Blanch-Rubio, J., Elurbe, D. M., Docampo Martinez, E., Collado, A., Vidal, J., Carbonell, J., Estivill, X., & Mila, M. (2013). Screening for the presence of FMR1 premutation alleles in women with fibromyalgia. Gene, 512 (2), 305-8. doi:10.1016/j.gene.2012.10.016 ![]() |
![]() ![]() | Docampo Martinez, E., Ribases, M., Gratacos, M., Bruguera, E., Cabezas, C., Sanchez-Mora, C., Nieva, G., Puente, D., Argimon-Pallas, J. M., Casas, M., Rabionet, R., & Estivill, X. (2012). Association of neurexin 3 polymorphisms with smoking behavior. Genes, Brain, and Behavior, 11 (6), 704-11. doi:10.1111/j.1601-183X.2012.00815.x ![]() |
![]() ![]() | Docampo Martinez, E., Giardina, E., Riveira-Munoz, E., de Cid, R., Escaramis, G., Perricone, C., Fernandez-Sueiro, J. L., Maymo, J., Gonzalez-Gay, M. A., Blanco, F. J., Huffmeier, U., Lisbona, M. P., Martin, J., Carracedo, A., Reis, A., Rabionet, R., Novelli, G., & Estivill, X. (2011). Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. Arthritis and Rheumatism, 63 (7), 1860-5. doi:10.1002/art.30340 ![]() |
![]() ![]() | Docampo Martinez, E., Rabionet, R., Riveira-Munoz, E., Escaramis, G., Julia, A., Marsal, S., Martin, J. E., Gonzalez-Gay, M. A., Balsa, A., Raya, E., Martin, J., & Estivill, X. (2010). Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis. Arthritis and Rheumatism, 62 (5), 1246-51. doi:10.1002/art.27381 ![]() |
![]() ![]() | Docampo Martinez, E., Ciria, M., Serra-Burges, J., Blanch, J., Perez Edo, L., & Carbonell, J. (2009). Factores predictivos de nueva fractura tras vertebroplastia. Medicina Clinica, 133 (1), 17-9. doi:10.1016/j.medcli.2008.07.027 ![]() |
![]() ![]() | Taverner, D., Lisbona, M. P., Segales, N., Docampo Martinez, E., Calvet, J., Castro, S., & Benito, P. (2008). Eficacia de la gabapentina en el tratamiento del sindrome del tunel carpiano. Medicina Clinica, 130 (10), 371-3. doi:10.1157/13117468 ![]() |
![]() ![]() | Rossello, L., Palliso, F., Ferrer, J., Docampo Martinez, E., Calvet, J., Benito, P., & Serra, J. (2008). Osteonecrosis vertebral y vertebroplastia percutanea. Reumatologiá Clinica, 4 (4), 162-5. doi:10.1016/S1699-258X(08)71827-8 ![]() |
![]() ![]() | Taverner, D., Monfort, J., Docampo Martinez, E., & Pou, M. (2008). Artritis septica por Propionibacterium acnes. Medicina Clinica, 131 (18), 718-9. doi:10.1157/13129130 ![]() |
![]() ![]() | Garcia-Miguel, J., Docampo Martinez, E., Blanch, J., & Benito, P. (2005). Calcinosis cutanea fistulizante en la dermatopolimiositis idiopatica del adulto. Medicina Clinica, 125 (19), 758. doi:10.1016/s0025-7753(05)72179-5 ![]() |