Article de journal
Harvengt, A., Pirlot, G., Denizli, L., Syed, Z., Welsch, S., Beckers, D., Mouraux, T., Seret, N., Lebrethon, M.-C., Helaers, R., Brouillard, P., Vikkula, M., & Lysy, P. A. (2026). Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes. Cells, 15(5), 484. https://doi.org/10.3390/cells15050484 (Original work published 2026)
Article de journal
Copelli, M. d. M., Atique-Tacla, M., Pairet, E., Correia-Costa, G. R., Henrique de Souza, T., Monlleó, I. L., Vieira, T. P., Helaers, R., Vikkula, M., & Gil-da-Silva-Lopes, V. L. (2025). Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts. Journal of Cranio-Maxillofacial Surgery, 53(4), 370-376. https://doi.org/10.1016/j.jcms.2024.12.016 (Original work published 2025)
Ranji, P., Pairet, E., Helaers, R., Brouillard, P., Bayet, B., Gerdom, A., Revencu, N., & Vikkula, M. (2025). Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. Human Mutation, 2025(1), 14. https://doi.org/10.1155/humu/2991452 (Original work published 2025)
Huyghe, N., Benidovskaya, E., Masoodi, T., Sinapi, I., De Cuyper, A., Vempalli, F., Beyaert, S., Bouzin, C., Osorio, F. M., Ferraro, L., van Baren, N., Helaers, R., Goffette, P., Ghaye, B., Van Maanen, A., Castella, M.-L., Ceccarelli, M., Bedognetti, D., Galon, J., et al. (2025). Impact of the tumor immune contexture in microsatellite-stable metastatic colorectal cancer treated with avelumab, cetuximab, and irinotecan. Cell Reports Medicine, 6(7), 102201. https://doi.org/10.1016/j.xcrm.2025.102201 (Original work published 2025)
Ranji Koozehkanan, P., Pairet, E., Helaers, R., Bayet, B., Gerdom, A., Gil-da-Silva-Lopes, V. L., Revencu, N., & Vikkula, M. (2025). Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC). European Journal of Human Genetics, 33(1), 38-43. https://doi.org/10.1038/s41431-024-01727-3 (Original work published 2025)
Van den Bossche, V., Vignau, J., Vigneron, E., Rizzi, I., Zaryouh, H., Wouters, A., Ambroise, J., Van Laere, S., Beyaert, S., Helaers, R., van Marcke de Lummen, C. J., Mignion, L., Lepicard, E., Jordan, B., Guilbaud, C., Lowyck, O., Dahou, H., Mendola, A., Desgres, M., et al. (2025). PPARα-mediated fatty acid metabolism reprogramming supports resistance to anti-EGFR targeted therapy in head and neck squamous cell carcinoma. Nature Communications. Published. (Original work published 2025)
Van den bossche, V., Vignau, J., Vigneron, E., Rizzi, I., Zaryouh, H., Wouters, A., Ambroise, J., Van Laere, S., Beyaert, S., Helaers, R., van Marcke, C., Mignion, L., Lepicard, E. Y., Jordan, B., Guilbaud, C., Lowyck, O., Dahou, H., Mendola, A., Desgres, M., et al. (2025). PPARα-mediated lipid metabolism reprogramming supports anti-EGFR therapy resistance in head and neck squamous cell carcinoma. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56675-3 (Original work published 2025)
Papier de conférence
Boutry, S., van Marcke de Lummen, C. J., Limaye, N., Smits, G., Brouillard, P., De Bortoli, M., Pairet, E., Saadat Varnosfaderanii, A., Helaers, R., Fellay, J., Lenaerts, T., & Vikkula, M. (2025). DoAggregate: a pipeline for aggregation testing for rare-variants on a gene and pathway level. European Journal of Human Genetics, 33(S1), 508-1220. https://doi.org/10.1038/s41431-025-01935-5 (Original work published 2025)
Article de journal
De Bortoli, M., Queisser, A., Pham, V. C., Dompmartin, A., Helaers, R., Boutry, S., Claus, C., De Roo, A.-K., Hammer, F., Brouillard, P., Abdelilah-Seyfried, S., Boon, L., & Vikkula, M. (2024). Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV). The Journal of Investigative Dermatology, 144(9), 2066-2077. https://doi.org/10.1016/j.jid.2024.01.033 (Original work published 2024)
Welsch, S., Harvengt, A., Gallo, P., Martin, M., Beckers, D., Mouraux, T., Seret, N., Lebrethon, M.-C., Helaers, R., Brouillard, P., Vikkula, M., & Lysy, P. (2024). A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms. Diabetes & Metabolism Journal, 48(5), 949-959. https://doi.org/10.4093/dmj.2023.0166 (Original work published 2024)
Atique Tacla, M., de Mello Copelli, M., Pairet, E., Lopes Monlleó, I., Marques Ribeiro, E., Lustosa Mendes, E., Helaers, R., Vieira, T. P., Vikkula, M., & Gil-da-Silva-Lopes, V. L. (2024). Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. European Journal of Human Genetics, 32(10), 1257-1266. https://doi.org/10.1038/s41431-023-01488-5 (Original work published 2024)
De Bortoli, M., Ivars, M., Revencu, N., Nassogne, M.-C., Lavarino, C., Paco, S., Lammens, M., Renders, A., Dumitriu, D. I., Helaers, R., Boon, L., Baselga, E., & Vikkula, M. (2024). Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American Journal of Medical Genetics. Part A, 194(6), e63551 [1-8]. https://doi.org/10.1002/ajmg.a.63551 (Original work published 2024)
Article de journal
Afshar, Y., Ma, F., Quach, A., Jeong, A., Sunshine, H. L., Freitas, V., Jami-Alahmadi, Y., Helaers, R., Li, X., Pellegrini, M., Wohlschlegel, J. A., Romanoski, C. E., Vikkula, M., & Iruela-Arispe, M. L. (2023). Transcriptional drifts associated with environmental changes in endothelial cells. eLife, 12, e81370 [1-29]. https://doi.org/10.7554/elife.81370 (Original work published 2023)
Copelli, M. d. M., Pairet, E., Atique-Tacla, M., Vieira, T. P., Appenzeller, S., Helaers, R., Vikkula, M., & Gil-da-Silva-Lopes, V. L. (2023). SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes, 14(4), 882 [1-8]. https://doi.org/10.3390/genes14040882 (Original work published 2023)
Boutry, S., Helaers, R., Lenaerts, T., & Vikkula, M. (2023). Rare variant association on unrelated individuals in case–control studies using aggregation tests: existing methods and current limitations. Briefings in Bioinformatics, 24(6), bbad412 [1-17]. https://doi.org/10.1093/bib/bbad412 (Original work published 2023)
Alpaslan, M., Mestré-Godin, S., Lay, A., Giacalone, G., Helaers, R., Adham, S., Kovacsik, H., Guillemard, S., Mercier, E., Boon, L., Revencu, N., Brouillard, P., Quere, I., & Vikkula, M. (2023). Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants. Journal of medical genetics, 60(12), 1161-1168. https://doi.org/10.1136/jmg-2023-109171 (Original work published 2023)
Honoré, N., van Marcke de Lummen, C. J., Galot, R., Helaers, R., Van Maanen, A., Ambroise, J., Mendola, A., Dahou, H., Marbaix, E., van Eeckhout, P., Longton, E., Magremanne, M., Schmitz, S., Limaye, N., & Machiels, J.-P. (2023). Tumor-agnostic plasma assay for circulating tumor DNA detects minimal residual disease and predicts outcome in locally advanced squamous cell carcinoma of the head and neck. Annals of Oncology, 34(12), 1175-1186. https://doi.org/10.1016/j.annonc.2023.09.3102 (Original work published 2023)
Honoré, N., van der Elst, A., Dietz, A., van Marcke de Lummen, C. J., Helaers, R., Mendola, A., Dahou, H., Marbaix, E., Poncin, R., Seront, E., Schmitz, S., Limaye, N., Galot, R., & Machiels, J.-P. (2023). Tumour-agnostic plasma assay for circulating tumour DNA predicts outcome in recurrent and/or metastatic squamous cell carcinoma of the head and neck treated with a PD-1 inhibitor. European Journal of Cancer, 195, 113372 [1-8]. https://doi.org/10.1016/j.ejca.2023.113372 (Original work published 2023)
Papier de conférence
Honoré, N., van Marcke de Lummen, C. J., Galot, R., Helaers, R., Van Maanen, A., Ambroise, J., Mendola, A., Dahou, H., Marbaix, E., Van Eeckhout, P., longton, E., Magremanne, M., Schmitz, S., Limaye, N., & Machiels, J.-P. (2023). Minimal residual disease (MRD) diagnosed by a plasma tumor-agnostic circulating tumor DNA (ctDNA) assay after curative therapy in locally advanced (LA) squamous cell carcinoma of the head and neck (SCCHN) predicts disease relapse and survival. Annals of Oncology, 1(b), c. (Original work published 2023)
Papier de conférence
Fages, A. E., Rajput Bhatti, M., Helaers, R., Loriot, A., Achouri, Y., Scheers, I., & Jacquemin, P. (2022). Découverte et caractérisation d’une nouvelle forme de pancréatite chronique. XXXVIème réunion du Club Français du Pancréas, Paris, France.
Article de journal
Byrne, A. B., Brouillard, P., Sutton, D. L., Kazenwadel, J., Montazaribarforoushi, S., Secker, G. A., Oszmiana, A., Babic, M., Betterman, K. L., Brautigan, P. J., White, M., Piltz, S. G., Thomas, P. Q., Hahn, C. N., Rath, M., Felbor, U., Korenke, G. C., Smith, C. L., Wood, K. H., et al. (2022). Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science Translational Medicine, 14(634), eabm486 [1-14]. https://doi.org/10.1126/scitranslmed.abm4869 (Original work published 2022)
Article de journal
El-Sibai, M., El Hajj, J., Al Haddad, M., El Baba, N., Al Saneh, M., Daoud Khatoun, W., Helaers, R., Vikkula, M., El Atat, O., Sabbagh, J., Abou Chebel, N., & Ghassibe-Sabbagh, M. (2021). Dysregulation of Rho GTPases in orofacial cleft patients-derived primary cells leads to impaired cell migration, a potential cause of cleft/lip palate development. Cells & development, 165, 203656. https://doi.org/10.1016/j.cdev.2021.203656 (Original work published 2021)
Anantharajah, A., Helaers, R., Defour, J.-P., Olive, N., Kabera, F., Croonen, L., Deldime, F., Vaerman, J.-L., Barbée, C., Bodéus, M., Scohy, A., Verroken, A., Rodriguez-Villalobos, H., & Kabamba-Mukadi, B. (2021). How to choose the right real-time RT-PCR primer sets for the SARS-CoV-2 genome detection? Journal of Virological Methods, 295, 114197 [1-7]. https://doi.org/10.1016/j.jviromet.2021.114197 (Original work published 2021)
Brouillard, P., Schlögel, M., Homayun Sepehr, N., Helaers, R., Queisser, A., Fastré, E., Boutry, S., Schmitz, S., Clapuyt, P., Hammer, F., Dompmartin, A., Weitz-Tuoretmaa, A., Laranne, J., Pasquesoone, L., Vilain, C., Boon, L., & Vikkula, M. (2021). Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations. Orphanet Journal of Rare Diseases, 16(1), 267 [1-12]. https://doi.org/10.1186/s13023-021-01898-y (Original work published 2021)
Homayun Sepehr, N., McCarter, A. L., Helaers, R., Galant, C., Boon, L., Brouillard, P., Vikkula, M., & Dellinger, M. T. (2021). KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. Journal of Clinical Investigation Insight, 6(15), e149831. https://doi.org/10.1172/jci.insight.149831 (Original work published 2021)
Article de journal
Boucinha, C., Caetano, A. R., Santos, H. L., Helaers, R., Vikkula, M., Branquinha, M. H., Dos Santos, A. L. S., Grellier, P., Morelli, K. A., & d’Avila-Levy, C. M. (2020). Analysing ambiguities in trypanosomatids taxonomy by barcoding. Memórias do Instituto Oswaldo Cruz, 115, e200504 [1-14]. https://doi.org/10.1590/0074-02760200504 (Original work published 2020)
van Marcke de Lummen, C. J., Helaers, R., De Leener, A., Merhi, A., Schoonjans, C., Ambroise, J., Galant, C., Delrée, P., Rothé, F., Bar, I., Khoury, E., Brouillard, P., Canon, J.-L., Vuylsteke, P., Machiels, J.-P., Berlière, M., Limaye, N., Vikkula, M., & Duhoux, F. (2020). Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families. Breast Cancer Research, 22(1), 36. https://doi.org/10.1186/s13058-020-01273-y (Original work published 2020)
d’Avila-Levy, C. M., Bearzatto, B., Ambroise, J., Helaers, R., Butenko, A., Yurchenko, V., Morelli, K. A., Santos, H. L. C., Brouillard, P., Grellier, P., Gala, J.-L., & Vikkula, M. (2020). First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing. Tropical medicine and infectious disease, 5(1), 25. https://doi.org/10.3390/tropicalmed5010025 (Original work published 2020)
Revencu, N., Fastre, E., Ravoet, M., Helaers, R., Brouillard, P., Bisdorff-Bresson, A., Chung, C. W. T., Gerard, M., Dvorakova, V., Irvine, A. D., Boon, L., & Vikkula, M. (2020). RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Journal of Medical Genetics, 57(1), 48-52. https://doi.org/10.1136/jmedgenet-2019-106024 (Original work published 2020)
Galot, R., van Marcke de Lummen, C. J., Helaers, R., Mendola, A., Goebbels, R.-M., Caignet, X., Ambroise, J., Wittouck, K., Vikkula, M., Limaye, N., & Machiels, J.-P. (2020). Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma. Oral Oncology, 104, 104631. https://doi.org/10.1016/j.oraloncology.2020.104631 (Original work published 2020)
Article de journal
Demeer, B., Revencu, N., Helaers, R., Gbaguidi, C., Dakpe, S., François, G., Devauchelle, B., Bayet, B., & Vikkula, M. (2019). Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. Genes, 10(10), 833 [1-9]. https://doi.org/10.3390/genes10100833 (Original work published 2019)
Dewulf, J., Wiame, E., Dorboz, I., Elmaleh-Bergès, M., Imbard, A., Dumitriu, D. I., Rak, M., Bourillon, A., Helaers, R., Malla, A., Renaldo, F., Boespflug-Tanguy, O., Vincent, M.-F., Benoist, J.-F., Wevers, R. A., Schlessinger, A., Van Schaftingen, E., Nassogne, M.-C., & Schiff, M. (2019). SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Annals of Neurology, 85(3), 385-395. https://doi.org/10.1002/ana.25412 (Original work published 2019)
Article de journal
Fastre, E., Lanteigne, L.-E., Helaers, R., Giacalone, G., Revencu, N., Dionyssiou, D., Demiri, E., Brouillard, P., & Vikkula, M. (2018). Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. Clinical Genetics : an international journal of genetics and molecular medicine, 94(1), 179-181. https://doi.org/10.1111/cge.13204 (Original work published 2018)
Demeer, B., Revencu, N., Helaers, R., Devauchelle, B., François, G., Bayet, B., & Vikkula, M. (2018). Unmasking Familial CPX by WES and Identification of Novel Clinical Signs. American Journal of Medical Genetics. Part A, 176(12), 2661-2667. https://doi.org/10.1002/ajmg.a.40630 (Original work published 2018)
Article de journal
Evenepoel, L., Helaers, R., Vroonen, L., Aydin, S., Hamoir, M., Maiter, D., Vikkula, M., & Persu, A. (2017). KIF1B and NF1 are the most frequently mutated genes in paraganglioma tumors. Endocrine - Related Cancer, 24(8), L57-L61. https://doi.org/10.1530/ERC-17-0061 (Original work published 2017)
Arts, F., Sciot, R., Brichard, B., Renard, M., de Rocca Serra, A., Dachy, G., Noël, L. A., Velghe, A., Galant, C., Debiec-Rychter, M., Van Damme, A., Vikkula, M., Helaers, R., Limaye, N., Antoine, H., & Demoulin, J. B. (2017). PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. Human Molecular Genetics, 26(10), 1801-1810. https://doi.org/10.1093/hmg/ddx081 (Original work published 2017)
Arts, F. A., Sciot, R., Brichard, B., Renard, M., Nedelec, A., Dachy, G., Noël, L. A., Velghe, A. I., Galant, C., Debiec-Rychter, M., Van Damme, A., Vikkula, M., Helaers, R., Limaye, N., Poirel, H. A., & Demoulin, J.-B. (2017). PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. Human Molecular Genetics, 26(10), 1801-1810. https://doi.org/10.1093/hmg/ddx081 (Original work published 2017)
Soblet, J., Kangas, J., Nätynki, M., Mendola, A., Helaers, R., Uebelhoer, M., Kaakinen, M., Cordisco, M., Dompmartin, A., Enjolras, O., Holden, S., Irvine, A. D., Kangesu, L., Léauté-Labrèze, C., Lanoel, A., Lokmic, Z., Maas, S., McAleer, M. A., Penington, A., et al. (2017). Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. The Journal of Investigative Dermatology, 137(1), 207-216. https://doi.org/10.1016/j.jid.2016.07.034 (Original work published 2017)
Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., Amor, D. J., Bisdorff, A., Blei, F., Bombei, H., Dompmartin, A., Brooks, D. J., González-Enseñat, M. A., et al. (2017). Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation, 136(11), 1037-1048. https://doi.org/10.1161/CIRCULATIONAHA.116.026886 (Original work published 2017)
Brouillard, P., Dupont, L., Helaers, R., Coulie, R., Tiller, G. E., Peeden, J., Colige, A., & Vikkula, M. (2017). Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Human Molecular Genetics, 26(21), 4095-4104. https://doi.org/10.1093/hmg/ddx297 (Original work published 2017)
Papier de conférence
van Marcke de Lummen, C. J., Schoonjans, C., Helaers, R., Amyere, M., Vikkula, M., & Duhoux, F. (2016). Deciphering the genetic background of high-risk BRCA 1/2 mutation-negative breast cancer patients. First Joint Meeting of the Belgian Society of Human Genetics & Dutch Society for Human Genetics, Leuven.
van Marcke de Lummen, C. J., Schoonjans, C., Helaers, R., Amyere, M., Vikkula, M., & Duhoux, F. (2016). Clinical utility of deciphering the genetic background of high-risk BRCA 1/2 mutation-negative breast cancer patients. Annual Meeting of the Belgian Society of Medical Oncology, Diegem.
Article de journal
Depiereux, S., Le Gac, F., De Meulder, B., Pierre, M., Helaers, R., Guiguen, Y., Kestemont, P., & Depiereux, E. (2015). Meta-Analysis of Microarray Data of Rainbow Trout Fry Gonad Differentiation Modulated by Ethynylestradiol. PLoS One, 10(9), e0135799. https://doi.org/10.1371/journal.pone.0135799 (Original work published 2015)
Limaye, N., Kangas, J., Mendola, A., Godfraind, C., Schlögel, M., Helaers, R., Eklund, L., Boon, L., & Vikkula, M. (2015). Somatic Activating PIK3CA Mutations Cause Venous Malformation. American Journal of Human Genetics, 97(6), 914-921. https://doi.org/10.1016/j.ajhg.2015.11.011 (Original work published 2015)
Article de journal
Tzika, A. C., Helaers, R., Schramm, G., & Milinkovitch, M. C. (2011). Reptilian-transcriptome v1.0, a glimpse in the brain transcriptome of five divergent Sauropsida lineages and the phylogenetic position of turtles. EvoDevo, 2(1). https://doi.org/10.1186/2041-9139-2-19 (Original work published 2011)
Helaers, R., Bareke, E., De Meulder, B., Pierre, M., Depiereux, S., Habra, N., & Depiereux, E. (2011). gViz, a novel tool for the visualization of co-expression networks. BMC Research Notes, 4. https://doi.org/10.1186/1756-0500-4-452 (Original work published 2011)
Article de journal
Milinkovitch, M. C., Helaers, R., Depiereux, E., Tzika, A. C., & Gabaldon, T. (2010). Considerations for the inclusion of 2x mammalian genomes in phylogenetic analyses (a response to Vilella et al.’s correspondence). Genome Biology, 12(2), 401. (Original work published 2011)
Milinkovitch, M. C., Helaers, R., Depiereux, E., Tzika, A. C., & Gabaldón, T. (2010). 2x genomes--depth does matter. Genome Biology, 11(2), R16. (Original work published 2010)
Helaers, R., & Milinkovitch, M. C. (2010). MetaPIGA v2.0 : maximum likelihood large phylogeny estimation using the metapopulation genetic algorithm and other stochastic heuristics. BMC Bioinformatics, 11, 379. (Original work published 2010)
Milinkovitch, M. C., Helaers, R., & Tzika, A. C. (2010). Historical constraints on vertebrate genome evolution. Genome Biology and Evolution, 2, 13-18. (Original work published 2010)
Thèse
Helaers, R. (2010). Développements en phylogénomique : comparaisons de génomes et estimation de grandes phylogénies.
Chapitre de livre
Tzika, A. C., Helaers, R., & Milinkovitch, M. C. (2010). Mapping gene gains and losses among metazoan full genomes using an integrated phylogenetic framework. In Katharina Dittmar, David Liberles (ed.), Evolution after Gene Duplication. Wiley-Blackwell.
Article de journal
Helaers, R., Tzika, A. C., Van de Peer, Y., & Milinkovitch, M. C. (2008). MANTIS : a phylogenetic framework for multi-species genome comparisons. Bioinformatics, 24(2), 151-157. (Original work published 2008)
