Publications and communications of Elisa DOCAMPO MARTINEZ

Grotzinger, A. D., Werme, J., Peyrot, W. J., Frei, O., de Leeuw, C., Bicks, L. K., Guo, Q., Margolis, M. P., Coombes, B. J., Batzler, A., Pazdernik, V., Biernacka, J. M., Andreassen, O. A., Anttila, V., Børglum, A. D., Breen, G., Cai, N., Demontis, D., Edenberg, H. J., ... Docampo Martínez, E. (January 2026). Mapping the genetic landscape across 14 psychiatric disorders. Nature, 649 (8096), 406 - 415. doi:10.1038/s41586-025-09820-3

Lopez Delhoulle, V., De Voeght, A., NECHIFOR - POTORAC, I., Sépulchre, E., Willems, E., Pétrossians, P., Fernandez Carazo, R., KOOPMANSCH, B., Docampo Martínez, E., Bours, V., Bulk, S.* , & Lambert, F.*. (16 October 2025). A Spectrum of Tumorigenesis in an IDH1-Mosaic Patient with Ollier Disease [Poster presentation]. 7th INTERNATIONAL CONFERENCE ACUTE MYELOID LEUKEMIA “MOLECULAR AND TRANSLATIONAL”: ADVANCES IN BIOLOGY AND TREATMENT, Estoril, Portugal.

Lu, Z.-A., Ploner, A., Birgegård, A., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Landén, M., Bulik, C. M., Bergen, S. E., & Docampo Martínez, E. (2025). Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa. Molecular Psychiatry. doi:10.1038/s41380-025-03264-x

Besse-Hammer, T., Docampo Martínez, E., Cabello Fernandez, C., Castro, P., Dufrasne, M., Englebert, V., Sadzot, B., Godin, S., Goldstein, M., Lutte, I., Maertens de Noordhout, B., Muylaert, P., & Guérit, J.-M. (2025). L’expert face à la mouvance des frontières entre neurologie et psychiatrie Colloque de l’ABEFRADOC et de l’AMEJ des 22 et 23 novembre 2024. Revue Belge du Dommage Corporel et de Médecine Légale: Consilio Manuque.

Chatelain, C., KUKOR, L., Bailleux, S., Bours, V., Bulk, S., & Docampo Martínez, E. (February 2025). Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature. European Journal of Medical Genetics, 73, 104985. doi:10.1016/j.ejmg.2024.104985

Correia Marques, M., Rubin, D., Shuldiner, E. G., Datta, M., Schmitz, E., Gutierrez Cruz, G., Patt, A., Bennett, E., Grom, A., Foell, D., Gattorno, M., Bohnsack, J., Yeung, R. S. M., Prahalad, S., Mellins, E., Anton, J., Len, C. A., Oliveira, S., Woo, P., ... Docampo Martínez, E. (October 2024). Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis. Arthritis and Rheumatology, 76 (10), 1566 - 1572. doi:10.1002/art.42938

Lu, Z.-A., Ploner, A., Birgegård, A., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Bulik, C. M., Bergen, S. E., & Docampo Martínez, E. (27 August 2024). Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis. Schizophrenia Bulletin, 50 (5), 1255 - 1265. doi:10.1093/schbul/sbae087

Bertrand, D., Joly, J., Neerinckx, B., Durez, P., Lenaerts, J., Joos, R., Thevissen, K., Zwaenepoel, T., Vanhoof, J., Di Romana, S., Taelman, V., Van Essche, E., Corluy, L., Ribbens, C., Berghe, M. V., Devinck, M., Ajeganova, S., Durnez, A., Boutsen, Y., ... The CareRA2020 Study group (Other coll.). (07 August 2024). Effectiveness of methotrexate and bridging glucocorticoids with or without early introduction of a 6-month course of etanercept in early RA: results of the 2-year, pragmatic, randomised CareRA2020 trial. RMD Open, 10 (3), 004535. doi:10.1136/rmdopen-2024-004535

Fouquet, C., Revencu, N., Docampo Martínez, E., Bours, V., Boeckx, N., Bart, L., & Harvengt, J. (April 2024). Loeys-Dietz syndrome associated with truncating variants in PMEPA1 gene: First description of the phenotypic spectrum in three Belgian families [Poster presentation]. BeSHG Annual Meeting.

CREVECOEUR, J., Docampo, E., Martin, M., & Bours, V. (2024). INTÉRÊT DE L’UTILISATION DES SCORES DE RISQUES POLYGÉNIQUES DANS LE DÉPISTAGE DU CANCER DU SEIN ET LA MÉDECINE DE PRÉVENTION. Revue Médicale de Liège, 79 (6), 372 - 378.

KUKOR, L., GESTER, F., Guiot, J., Bours, V., & Docampo Martínez, E. (2024). Genetic counseling of the idiopatic pulmonary fibrosis in the University Hospital of Liège [Poster presentation]. Belgian Society of Human Genetics annual meeting, Leuven, Belgium.

Lehane, F., Malaise, O., Von Frenckell, C., OTTO, B., Docampo Martínez, E., & Ribbens, C. (2024). Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications. Journal of Clinical Medicine, 13 (8), 2263. doi:10.3390/jcm13082263

CALMES, D., Bricmont, N., Bonhiver, R., Guissard, F., PAULY, C., HOUGRAND, O., Benchimol, L., Poirrier, A.-L., Docampo Martínez, E., Harvengt, J., JACQUINET, A., Seghaye, M.-C., Louis, R., & Kempeneers, C. (09 September 2023). A complete test panel avoids missed PCD diagnosis in adults with mild clinical phenotype. European Respiratory Journal, 62 suppl 67. doi:10.1183/13993003.congress-2023.pa393

Fouquet, C., Leroi, N., Coupier, J., Docampo Martínez, E., Bulk, S., & Bours, V. (17 March 2023). Discordancy in interpretation of a BRCA1 variant in the Belgian population [Poster presentation]. BeSHG Annual Meeting 2023.

Docampo Martínez, E., Lehane, F., & Ribbens, C. (2023). Le syndrome d’Ehlers Danlos : une maladie rare fréquemment suspectée. Revue Médicale de Liège, 78 (11), 626 - 633.

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.

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.

Momozawa, Y., Dmitrieva, J. B., Theatre, E., Deffontaine, V., Rahmouni, S., Charloteaux, B., Crins, F., Elansary, M., Gori, A.-S., LECUT, C., Mariman, R., Mni, M., Oury, C., Altukhov, I., Alexeev, D., Aulchenko, Y., Amininejad, L., van der Meulen-de Jong, A. E., van der Woude, C. J., ... Docampo Martínez, E. (2018). IBD risk loci are enriched in multigenic regulatory modules encompassing causative genes. Nature Communications. doi:10.1038/s41467-018-04365-8

Ghisdal, L., Baron, C., Lebranchu, Y., Viklicky, O., Konarikova, A., Naesens, A., Kuypers, D., Dinic, M., Alamartine, E., Touchard, G., Antoine, T., Essig, M., Rerolle, J. P., Merville, P., Taupin, J. L., Le Meur, Y., Grall - Jezequel, A., Glowacki, F., Noel, C., ... Abramowicz M. (2017). Genome-wide Association Study of Acute Renal Graft Rejection. American Journal of Transplantation, 17 (1), 201-2019. doi:10.1111/ajt.13912

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

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

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

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

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

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.

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

Blanch, J., Guanabens, N., Lisbona, M. P., Docampo Martínez, E., & Ruiz, D. (2013). Effects of calcium and vitamin D with and without lactulose on bone mineral density in postmenopausal women with osteopenia: a randomized controlled pilot trial. Revista de Osteoporosis y Metabolismo Mineral.

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

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

Estivill, X., Ribases, M., Marta Morell, Arribas, C., & Docampo Martínez, E. (30 August 2011). Association of Neurexin 3 (NRXN3) variants with nicotine dependence [Poster presentation]. The Genomics of Common Diseases 2011, Hinxton, United Kingdom.

Estivill, X., Rabionet, R., Ribases, M., Gratacos, M., Montfort, M., & Docampo Martínez, E. (2011). Association of Neurexin 3 variants with nicotine dependence [Poster presentation]. The genomics of Common Diseases 2011, Hinxton, United Kingdom.

Docampo Martínez, E. (2008). Genomic structural variation in multiple sclerosis [Master’s dissertation, Universitat de Barcelona]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/339942

Docampo Martínez, E. (01 June 2008). Genomic structural variation in patients with Multiple Sclerosis [Poster presentation]. European Society of human genetics annual meeting, Barcelone, Spain.

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., 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

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