Raphaël Helaers
SSS/DDUV Institut de Duve (DDUV)
SSS/DDUV/GEHU Génétique (GEHU)
DEXT/UTE/ADUV Institut De Duve (ADUV)
I am a bioinformatician with a strong expertise in Next Generation Sequencing (NGS) and software development, and a deep interest in biology, genetics and evolution. With a master of computer sciences, I began working in the lab of Michel Milinkovitch at ULB, for which I developed a LIMS (Laboratory Information Management System). As the lab focus was on evolutionary biology, I engaged in two projects that allowed me to dive into molecular biology. In the first, I implemented meta-heuristics within a comprehensive software for phylogeny inference. In the latter I built a phylogenetic framework for multi-species genome comparisons. I completed my PhD thesis on these two fields at the UNamur, where I worked with Pr. Éric Depiereux. Since 2010, I have worked in the lab of Pr. Miikka Vikkula at de Duve Institute (UCLouvain), where I manage bioinformatics for the Next Generation Sequencing platform and provide bioinformatics support for the de Duve Institute. Here, I developed my expertise in NGS data analysis and human genetics, culminating in the implementation of an easy-to-use but complete software for variant filtering that has allowed geneticists to discover numerous new mutations in rare human diseases.
Diplômes
| Année | Libellé | Établissement |
|---|---|---|
| 2004 | Université Libre de Bruxelles (Belgique) | |
| 2010 | Facultés Universitaires Notre Dame de la Paix à Namur (Belgique) |
Van den Bossche, Valentin ; Vignau, Julie ; Vigneron, Engy ; Rizzi, Isabella ; Zaryouh, Hannah ; Wouters, An ; Ambroise, Jérôme ; Van Laere, Steven ; Beyaert, Simon ; Helaers, Raphaël ; van Marcke, Cédric ; Mignion, Lionel ; Lepicard, Elise ; Jordan, Bénédicte ; Guilbaud, Céline ; Lowyck, Olivier ; Dahou, Hajar ; Mendola, Antonella ; Desgres, Manon ; Aubert, Léo ; Gerin, Isabelle ; Bommer, Guido ; Boidot, Romain ; Vermonden, Perrine ; Warnant, Aurélien ; Larondelle, Yvan ; Machiels, Jean-Pascal ; Feron, Olivier ; Schmitz, Sandra ; Corbet, Cyril. PPARα-mediated fatty acid metabolism reprogramming supports resistance to anti-EGFR targeted therapy in head and neck squamous cell carcinoma. In: Nature Communications (Accepté/Sous presse).
Welsch, Sophie ; Harvengta, Antoine ; Gallo, Paola ; Martin, Manon ; Beckers, Dominique ; MOURAUX, Thierry ; Seret, Nicole ; Lebrethon, Marie-Christine ; Helaers, Raphaël ; Brouillard, Pascal ; Vikkula, Miikka ; Lysy, Philippe. A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms. In: Diabetes & Metabolism Journal, Vol. 48, no. 5, p. 949-959 (2024). doi:10.4093/dmj.2023.0166.
De Bortoli, Martina ; Ivars, Marta ; Revencu, Nicole ; Nassogne, Marie-Cécile ; Lavarino, Cinzia ; Paco, Sonia ; Lammens, Martin ; Renders, Anne ; Dumitriu, Dana Ioana ; Helaers, Raphaël ; Boon, Laurence M. ; Baselga, Eulalia ; Vikkula, Miikka. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. In: American Journal of Medical Genetics Part A, (2024). doi:10.1002/ajmg.a.63551 (Accepté/Sous presse).
Ranji, Peyman ; Pairet, Eleonore ; Helaers, Raphael ; Bayet, Bénédicte ; Gerdom, Alexander ; Gil-da-Silva-Lopes, Vera Lúcia ; Revencu, Nicole ; Vikkula, Miikka. Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).. In: European journal of human genetics : EJHG, (2024). doi:10.1038/s41431-024-01727-3 (Accepté/Sous presse).
Atique Tacla, Milena ; de Mello Copelli, Matheus ; Pairet, Eleonore ; Lopes Monlleó, Isabella ; Marques Ribeiro, Erlane ; Lustosa Mendes, Elaine ; Helaers, Raphaël ; Vieira, Tarsis Paiva ; Vikkula, Miikka ; Gil-da-Silva-Lopes, Vera Lúcia. Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. In: European journal of human genetics, Vol. 32, no. 10, p. 1257-1266 (2024). doi:10.1038/s41431-023-01488-5.
De Bortoli, Martina ; Queisser, Angela ; Pham, Van Cuong ; Dompmartin, Anne ; Helaers, Raphaël ; Boutry, Simon ; Claus, Cathy ; De Roo, An-Katrien ; Hammer, Frank ; Brouillard, Pascal ; Abdelilah-Seyfried, Salim ; Boon, Laurence M. ; Vikkula, Miikka. Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV). In: Journal of Investigative Dermatology, Vol. 144, no. 9, p. 2066-2077 (2024). doi:10.1016/j.jid.2024.01.033 (Accepté/Sous presse).
Boutry, Simon ; Helaers, Raphaël ; Lenaerts, Tom ; Vikkula, Miikka. Rare variant association on unrelated individuals in case–control studies using aggregation tests: existing methods and current limitations. In: Briefings in bioinformatics, Vol. 24, no. 6, p. bbad412 [1-17] (2023). doi:10.1093/bib/bbad412.
Copelli, Matheus de Mello ; Pairet, Eleonore ; Atique-Tacla, Milena ; Vieira, Társis Paiva ; Appenzeller, Simone ; Helaers, Raphaël ; Vikkula, Miikka ; Gil-da-Silva-Lopes, Vera Lúcia. SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. In: Genes, Vol. 14, no.4, p. 882 (2023). doi:10.3390/genes14040882 (Soumis).
Afshar, Yalda ; Ma, Feyiang ; Quach, Austin ; Jeong, Anhyo ; Sunshine, Hannah L ; Freitas, Vanessa ; Jami-Alahmadi, Yasaman ; Helaers, Raphael ; Li, Xinmin ; Pellegrini, Matteo ; Wohlschlegel, James A ; Romanoski, Casey E ; Vikkula, Miikka ; Iruela-Arispe, M Luisa. Transcriptional drifts associated with environmental changes in endothelial cells. In: eLife, Vol. 12, p. 1-29 (2023). doi:10.7554/elife.81370.
Honoré, Natasha ; van Marcke, Cédric ; Galot, Rachel ; Helaers, Raphaël ; Van Maanen, Aline ; Ambroise, Jérôme ; Mendola, Antonella ; Dahou, Hajar ; Marbaix, Etienne ; van Eeckhout, Pascal ; Longton, Eleonore ; Magremanne, Michele ; Schmitz, Sandra ; Limaye, Nisha ; Machiels, Jean-Pascal. 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. In: Annals of Oncology, (2023). doi:10.1016/j.annonc.2023.09.3102.
Honoré, Natasha ; van der Elst, Athénaïs ; Dietz, Anna ; van Marcke, Cédric ; Helaers, Raphael ; Mendola, Antonella ; Dahou, Hajar ; Marbaix, Etienne ; Poncin, Renaud ; Seront, Emanuel ; Schmitz, Sandra ; Limaye, Nisha ; Galot, Rachel ; Machiels, Jean-Pascal. 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.. In: European journal of cancer (Oxford, England : 1990), Vol. 195, no.a, p. 113372 (2023). doi:10.1016/j.ejca.2023.113372.
Alpaslan, Murat ; Mestré-Godin, Sandrine ; Lay, Aurélie ; Giacalone, Guido ; Helaers, Raphaël ; Adham, Salma ; Kovacsik, Hélène ; Guillemard, Sophie ; Mercier, Erick ; Boon, Laurence M. ; Revencu, Nicole ; Brouillard, Pascal ; Quere, Isabelle ; Vikkula, Miikka. Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants. In: Journal of Medical Genetics, Vol. x, no.x, p. jmg-2023-109171 (2023). doi:10.1136/jmg-2023-109171.
Honoré, Natasha ; van Marcke, Cédric ; Galot, Rachel ; Helaers, Raphaël ; Van Maanen, Aline ; Ambroise, Jérôme ; Mendola, Antonella ; Dahou, Hajar ; Marbaix, Etienne ; Van Eeckhout, Pascal ; longton, Eléonore ; Magremanne, Michèle ; Schmitz, Sandra ; Limaye, Nisha ; Machiels, Jean-Pascal. 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. ESMO Congress 2023 (Madrid, du 20/10/2023 au 24/10/2023). In: Annals of Oncology, Vol. 1, no.b, p. c (2023).
Byrne, Alicia B. ; Brouillard, Pascal (co-first author) ; Sutton, Drew L. (co-first author) ; Kazenwadel, Jan (co-first author) ; Montazaribarforoushi, Saba ; Secker, Genevieve A. ; Oszmiana, Anna ; Babic, Milena ; Betterman, Kelly L. ; Brautigan, Peter J. ; White, Melissa ; Piltz, Sandra G. ; Thomas, Paul Q. ; Hahn, Christopher N. ; Rath, Matthias ; Felbor, Ute ; Korenke, G. Christoph ; Smith, Christopher L. ; Wood, Kathleen H. ; Sheppard, Sarah E. ; Adams, Denise M. ; Kariminejad, Ariana ; Helaers, Raphaël ; Boon, Laurence M. ; Revencu, Nicole ; Moore, Lynette ; Barnett, Christopher ; Haan, Eric ; Arts, Peer ; Vikkula, Miikka ; Scott, Hamish S. ; Harvey, Natasha L.. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. In: Science translational medicine, Vol. 14, no. 634, p. eabm486 [1-14] (2022). doi:10.1126/scitranslmed.abm4869.
Fages, Angeline Emmanuelle ; Rajput Bhatti, Memoona ; Helaers, Raphaël ; Loriot, Axelle ; Achouri, Younes ; Scheers, Isabelle ; Jacquemin, P. Découverte et caractérisation d’une nouvelle forme de pancréatite chronique. XXXVIème réunion du Club Français du Pancréas (Paris, France, du 22/09/2022 au 23/09/2022).
Rajput Bhatti, Memoona ; Helaers, Raphaël ; Loriot, Axelle ; Achouri, Younes ; Scheers, Isabelle ; Jacquemin, Patrick. Through the discovery and characterization of a new form of pancreatitis. 5th European Cilia Conference (Cologne, Allemagne, du 04/10/2022 au 07/10/2022).
El-Sibai, Mirvat ; El Hajj, Joelle ; Al Haddad, Maria ; El Baba, Nada ; Al Saneh, Mounir ; Daoud Khatoun, Wassim ; Helaers, Raphaël ; Vikkula, Miikka ; El Atat, Oula ; Sabbagh, Joseph ; Abou Chebel, Naji ; Ghassibe-Sabbagh, Michella. Dysregulation of Rho GTPases in orofacial cleft patients-derived primary cells leads to impaired cell migration, a potential cause of cleft/lip palate development.. In: Cells & development, Vol. 165, p. 203656 (2021). doi:10.1016/j.cdev.2021.203656 (Accepté/Sous presse).
Anantharajah, Ahalieyah ; Helaers, Raphaël ; Defour, Jean-Philippe ; Olive, Nathalie ; Kabera, Florence ; Croonen, Luc ; Deldime, Françoise ; Vaerman, Jean-Luc ; Barbée, Cindy ; Bodéus, Monique ; Scohy, Anaïs ; Verroken, Alexia ; Rodriguez-Villalobos, Hector ; Kabamba-Mukadi, Benoît. How to choose the right real-time RT-PCR primer sets for the SARS-CoV-2 genome detection?. In: Journal of virological methods, Vol. 295, p. 114197 [1-7] (2021). doi:10.1016/j.jviromet.2021.114197.
Homayun Sepehr, Nassim ; McCarter, Anna L. ; Helaers, Raphaël ; Galant, Christine ; Boon, Laurence M. ; Brouillard, Pascal ; Vikkula, Miikka ; Dellinger, Michael T.. KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. In: Journal of Clinical Investigation Insight, Vol. 6, no. 15, p. e149831 (2021). doi:10.1172/jci.insight.149831.
Brouillard, Pascal ; Schlögel, Matthieu (co-first author) ; Homayun Sepehr, Nassim ; Helaers, Raphaël ; Queisser, Angela ; Fastré, Elodie ; Boutry, Simon ; Schmitz, Sandra ; Clapuyt, Philippe ; Hammer, Frank ; Dompmartin, Anne ; Weitz-Tuoretmaa, Annamaria ; Laranne, Jussi ; Pasquesoone, Louise ; Vilain, Catheline ; Boon, Laurence M. ; Vikkula, Miikka. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.. In: Orphanet journal of rare diseases, Vol. 16, no. 1, p. 267 [1-12] (2021). doi:10.1186/s13023-021-01898-y.
Boucinha, Carolina ; Caetano, Amanda R ; Santos, Helena Lc ; Helaers, Raphaël ; Vikkula, Miikka ; Branquinha, Marta Helena ; Dos Santos, André Luis Souza ; Grellier, Philippe ; Morelli, Karina Alessandra ; d'Avila-Levy, Claudia Masini. Analysing ambiguities in trypanosomatids taxonomy by barcoding.. In: Memorias do Instituto Oswaldo Cruz, Vol. 115, p. e200504 [1-14] (2020). doi:10.1590/0074-02760200504.
d'Avila-Levy, Claudia M ; Bearzatto, Bertrand ; Ambroise, Jérôme ; Helaers, Raphaël ; Butenko, Anzhelika ; Yurchenko, Vyacheslav ; Morelli, Karina A ; Santos, Helena L C ; Brouillard, Pascal ; Grellier, Philippe ; Gala, Jean-Luc ; Vikkula, Miikka. First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing. In: Tropical medicine and infectious disease, Vol. 5, no. 1, p. 25 (2020). doi:10.3390/tropicalmed5010025.
Galot, Rachel ; van Marcke, Cédric (co-first author) ; Helaers, Raphaël ; Mendola, Antonella ; Goebbels, Rose-Marie ; Caignet, Xavier ; Ambroise, Jérôme ; Wittouck, Kyril ; Vikkula, Miikka ; Limaye, Nisha ; Machiels, Jean-Pascal. Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma.. In: Oral oncology, Vol. 104, p. 104631 (2020). doi:10.1016/j.oraloncology.2020.104631.
Revencu, Nicole ; Fastre, Elodie ; Ravoet, Marie ; Helaers, Raphaël ; Brouillard, Pascal ; Bisdorff-Bresson, Annouk ; Chung, Clara W T ; Gerard, Marion ; Dvorakova, Veronika ; Irvine, Alan D ; Boon, Laurence M. ; Vikkula, Miikka. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.. In: Journal of Medical Genetics, Vol. 57, no. 1, p. 48-52 (2020). doi:10.1136/jmedgenet-2019-106024.
van Marcke, Cédric ; Helaers, Raphaël ; De Leener, Anne ; Merhi, Ahmad ; Schoonjans, Céline ; Ambroise, Jérôme ; Galant, Christine ; Delrée, Paul ; Rothé, Françoise ; Bar, Isabelle ; Khoury, Elsa ; Brouillard, Pascal ; Canon, Jean-Luc ; Vuylsteke, Peter ; Machiels, Jean-Pascal ; Berliere, Martine ; Limaye, Nisha ; Vikkula, Miikka ; Duhoux, François. Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.. In: Breast cancer research, Vol. 22, no. 1, p. 36 (2020). doi:10.1186/s13058-020-01273-y.
van Marcke, Cédric ; Helaers, Raphaël ; Schoonjans, Céline ; Berliere, Martine ; De Leener, Anne ; Canon, Jean-Luc ; Vuylsteke, Peter ; Machiels, Jean-Pascal ; Limaye, Nisha ; Vikkula, Miikka ; Duhoux, Francois. Abstract P5-03-03: Tumor sequencing is useful to reclassify germline variants in unexplained high-risk breast cancer families. Abstracts: 2019 San Antonio Breast Cancer Symposium; December 10-14, 2019; San Antonio, Texas (San Antonio, Texas). In: American Association for Cancer Research. Proceedings of the Annual Meeting, Vol. 80, no.4, p. / (2020). doi:10.1158/1538-7445.sabcs19-p5-03-03.
Demeer, Bénédicte ; Revencu, Nicole ; Helaers, Raphaël ; Gbaguidi, Cica ; Dakpe, Stéphanie ; François, Geneviève ; Devauchelle, Bernard ; Bayet, Bénédicte ; Vikkula, Miikka. Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.. In: Genes, Vol. 10, no. 10, p. 833 [1-9] (2019). doi:10.3390/genes10100833.
Dewulf, Joseph P. ; Wiame, Elsa ; Dorboz, Imen ; Elmaleh-Bergès, Monique ; Imbard, Apolline ; Dumitriu, Dana Loana ; Rak, Malgorzata ; Bourillon, Agnès ; Helaers, Raphaël ; Malla, Alisha ; Renaldo, Florence ; Boespflug-Tanguy, Odile ; Vincent, Marie-Françoise ; Benoist, Jean-François ; Wevers, Ron A ; Schlessinger, Avner ; Van Schaftingen, Emile ; Nassogne, Marie-Cécile ; Schiff, Manuel. SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.. In: Annals of neurology, Vol. 85, no. 3, p. 385-395 (2019). doi:10.1002/ana.25412.
van Marcke, Cédric ; Helaers, Raphaël ; Schoonjans, Céline ; Ambroise, Jérôme ; Berlière, Martine ; canon, Jean-Luc ; Vuylsteke, Peter ; Machiels, Jean-Pascal ; Vikkula, Miikka ; Duhoux, François. Co-segregation of rare possibly-damaging variants in cancer-related genes correlates with phenotypic homogeneity in familial breast cancer. San Antonio Breast Cancer Symposium (San Antonio, du 10/12/2019 au 14/12/2019).
Galot, Rachel ; van Marcke, Cédric ; Helaers, Raphaël ; Mendola, Antonella ; Goebbels, Rose-Marie ; Caignet, Xavier ; Ambroise, Jérôme ; Wittouck, Kyril ; Vikkula, Miikka ; Limaye, Nisha ; Machiels, Jean-Pascal. Liquid biopsy for mutational profiling of locoregional recurrent (LR) and/or metastatic (M) squamous cell carcinoma of the head and neck (SCCHN). ESMO (Barcelona, du 27/09/2019 au 01/10/2019).
van Marcke, Cédric ; Helaers, Raphaël ; Schoonjans, Céline ; Berlière, Martine ; De Leener, Anne ; canon, Jean-Luc ; Vuylsteke, Peter ; Machiels, Jean-Pascal ; Limaye, Nisha ; Vikkula, Miikka ; Duhoux, François. Tumor sequencing is useful to reclassify germline variants in unexplained high-risk breast cancer . San Antonio Breast Cancer Symposium (San Antonio, du 10/12/2019 au 14/12/2019).
Fastre, Elodie ; Lanteigne, Lydia-Elizabeth ; Helaers, Raphaël ; Giacalone, Guido ; Revencu, Nicole ; Dionyssiou, Dimitris ; Demiri, Efterpi ; Brouillard, Pascal ; Vikkula, Miikka. Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.. In: Clinical Genetics, Vol. 94, no. 1, p. 179-181 (2018). doi:10.1111/cge.13204.
Demeer, Bénédicte ; Revencu, Nicole ; Helaers, Raphaël ; Devauchelle, Bernard ; François, Geneviève ; Bayet, Bénédicte ; Vikkula, Miikka. Unmasking Familial CPX by WES and Identification of Novel Clinical Signs. In: American journal of medical genetics. Part A, Vol. 176, no. 12, p. 2661-2667 (2018). doi:10.1002/ajmg.a.40630.
Basha, Mirta ; Demeer, Bénédicte ; Revencu, Nicole ; Helaers, Raphael ; Theys, Stephanie ; Bou Saba, Sami ; Boute, Odile ; Devauchelle, Bernard ; Francois, Geneviève ; Bayet, Bénédicte ; Vikkula, Miikka. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.. In: Journal of Medical Genetics, Vol. 55, no. 7, p. 449-58 (2018). doi:10.1136/jmedgenet-2017-105110.
Soblet, Julie ; Kangas, Jaakko ; Nätynki, Marjut ; Mendola, Antonella ; Helaers, Raphaël ; Uebelhoer, Mélanie ; Kaakinen, Mika ; Cordisco, Maria ; Dompmartin, Anne ; Enjolras, Odile ; Holden, Simon ; Irvine, Alan D ; Kangesu, Loshan ; Léauté-Labrèze, Christine ; Lanoel, Agustina ; Lokmic, Zerina ; Maas, Saskia ; McAleer, Maeve A ; Penington, Anthony ; Rieu, Paul ; Syed, Samira ; van der Vleuten, Carine ; Watson, Rosemarie ; Fishman, Steven J ; Mulliken, John B ; Eklund, Lauri ; Limaye, Nisha ; Boon, Laurence M. ; Vikkula, Miikka. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.. In: The Journal of Investigative Dermatology, Vol. 137, no. 1, p. 207-216 (2017). doi:10.1016/j.jid.2016.07.034.
Amyere, Mustapha ; Revencu, Nicole ; Helaers, Raphaël ; Pairet, Eleonore ; Baselga, Eulalia ; Cordisco, Maria ; Chung, Wendy ; Dubois, Josée ; Lacour, Jean-Philippe ; Martorell, Loreto ; Mazereeuw-Hautier, Juliette ; Pyeritz, Reed E. ; Amor, David J. ; Bisdorff, Anouck ; Blei, Francine ; Bombei, Hannah ; Dompmartin, Anne ; Brooks, David J. ; González-Enseñat, Maria Antonia ; Frieden, Ilona ; Gerard, Marion ; Kvarnung, Malin ; Kwan Hanson-Kahn, Andrea ; Hudgins, Louanne ; Leaute-Labreze, Christine ; McCuaig, Catherine ; Metry, Denise ; Parent, Philippe ; Paul, Carle ; Petit, Florence ; Phan, Alice ; Quere, Isabelle ; Salhi, Aicha ; Turner, Anne ; Vabres, Pierre ; Vicente, Asuncion ; Wargon, Orli ; Watanabe, Shoji ; Weibel, Lisa ; Wilson, Ashley ; Willing, Marcia ; Mulliken, John B. ; Boon, Laurence M. ; Vikkula, Miikka. Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.. In: Circulation, Vol. 136, no. 11, p. 1037-1048 (2017). doi:10.1161/CIRCULATIONAHA.116.026886.
Evenepoel, Lucie ; Helaers, Raphaël ; Vroonen, Laurent ; Aydin, Selda ; Hamoir, Marc ; Maiter, Dominique ; Vikkula, Miikka ; Persu, Alexandre. KIF1B and NF1 are the most frequently mutated genes in paraganglioma tumors. In: Endocrine - Related Cancer, Vol. 24, no. 8, p. L57-L61 (2017). doi:10.1530/ERC-17-0061.
Brouillard, Pascal ; Dupont, Laura ; Helaers, Raphaël ; Coulie, Richard ; Tiller, George E. ; Peeden, Joseph ; Colige, Alain ; Vikkula, Miikka. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. In: Human Molecular Genetics, Vol. 26, no. 21, p. 4095-4104 (2017). doi:10.1093/hmg/ddx297.
Arts, Florence A ; Sciot, Raf ; Brichard, Bénédicte ; Renard, Marleen ; Nedelec, Audrey ; Dachy, Guillaume ; Noël, Laura A ; Velghe, Amélie I ; Galant, Christine ; Debiec-Rychter, Maria ; Van Damme, An ; Vikkula, Miikka ; Helaers, Raphaël ; Limaye, Nisha ; Poirel, Hélène A ; Demoulin, Jean-Baptiste. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.. In: Human molecular genetics, Vol. 26, no.10, p. 1801-1810 (2017). doi:10.1093/hmg/ddx081 (Soumis).
Arts, Florence ; Sciot, Raf ; Brichard, Bénédicte ; Renard, Marleen ; de Rocca Serra, Audrey ; Dachy, Guillaume ; Noël, Laura A ; Velghe, Amélie ; Galant, Christine ; Debiec-Rychter, Maria ; Van Damme, An ; Vikkula, Miikka ; Helaers, Raphaël ; Limaye, Nisha ; Antoine, Hélène ; Demoulin, Jean-Baptiste. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.. In: Human Molecular Genetics, Vol. 26, no. 10, p. 1801-1810 (2017). doi:10.1093/hmg/ddx081.
van Marcke, Cédric ; Helaers, Raphaël ; Vikkula, Miikka ; Duhoux, François. Segregation and tumor phenotype analyses are helpful to filter out rare germline variants in high-risk BRCA 1/2 mutation-negative breast cancer families. Annual Meeting of the Belgian Society of Human Genetics (Louvain-la-Neuve, 17/02/2017).
van Marcke, Cédric ; Schoonjans, Céline ; Helaers, Raphaël ; Amyere, Mustapha ; Vikkula, Miikka ; Duhoux, François. 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, du 26/02/2016 au 27/02/2016).
van Marcke, Cédric ; Schoonjans, Céline ; Helaers, Raphaël ; Amyere, Mustapha ; Vikkula, Miikka ; Duhoux, François. 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, du 04/02/2016 au 05/02/2016).
Depiereux, Sophie ; Le Gac, Florence ; De Meulder, Bertrand ; Pierre, Michael ; Helaers, Raphaël ; Guiguen, Yann ; Kestemont, Patrick ; Depiereux, Eric. Meta-Analysis of Microarray Data of Rainbow Trout Fry Gonad Differentiation Modulated by Ethynylestradiol. In: PLoS One, Vol. 10, no.9, p. e0135799 (2015). doi:10.1371/journal.pone.0135799.
Limaye, Nisha ; Kangas, Jaakko ; Mendola, Antonella ; Godfraind, Catherine ; Schlögel, Matthieu ; Helaers, Raphaël ; Eklund, Lauri ; Boon, Laurence M. ; Vikkula, Miikka. Somatic Activating PIK3CA Mutations Cause Venous Malformation. In: American Journal of Human Genetics, Vol. 97, no. 6, p. 914-921 (2015). doi:10.1016/j.ajhg.2015.11.011.
Tzika, Athanasia C. ; Helaers, Raphaël ; Schramm, Gerrit ; Milinkovitch, Michel C.. Reptilian-transcriptome v1.0, a glimpse in the brain transcriptome of five divergent Sauropsida lineages and the phylogenetic position of turtles. In: EvoDevo, Vol. 2, no. 1 (2011). doi:10.1186/2041-9139-2-19.
Helaers, Raphaël ; Bareke, Eric ; De Meulder, Bertrand ; Pierre, Michael ; Depiereux, Sophie ; Habra, Naji ; Depiereux, Eric. gViz, a novel tool for the visualization of co-expression networks. In: BMC Research Notes, Vol. 4 (2011). doi:10.1186/1756-0500-4-452.
Milinkovitch, Michel C ; Helaers, Raphaël ; Depiereux, Eric ; Tzika, Athanasia C ; Gabaldón, Toni. 2x genomes--depth does matter.. In: Genome biology, Vol. 11, no. 2, p. R16 (2010).
Milinkovitch, Michel C. ; Helaers, Raphaël ; Depiereux, Eric ; Tzika, Athanasia C. ; Gabaldon, Toni. Considerations for the inclusion of 2x mammalian genomes in phylogenetic analyses (a response to Vilella et al.’s correspondence). In: Genome Biology, Vol. 12, no.2, p. 401 (21 February 2011).
Milinkovitch, Michel C. ; Helaers, Raphaël ; Tzika, Athanasia C.. Historical constraints on vertebrate genome evolution.. In: Genome biology and evolution, Vol. 2, p. 13-18 (2010).
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