R. Helaers

Most-cited papers

1. Somatic Activating PIK3CA Mutations Cause Venous Malformation.

   N. Limaye, Jaakko Kangas, A. Mendola, C. Godfraind +5 more

   2015American Journal of Human Genetics335 citations Open access

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2. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

   Mustapha Amyere, N. Revencu, R. Helaers, Eleonore Pairet +41 more

   2017Circulation255 citations Open access

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3. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

   J. Soblet, Jaakko Kangas, Marjut Natynki, A. Mendola +25 more

   2017Journal of Investigative Dermatology207 citations Open access

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4. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3

   P. Brouillard, L. Dupont, R. Helaers, R. Coulie +4 more

   2017Human Molecular Genetics107 citations Open access

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5. MetaPIGA v2.0: maximum likelihood large phylogeny estimation using the metapopulation genetic algorithm and other stochastic heuristics

   R. Helaers, M. Milinkovitch

   2010BMC Bioinformatics104 citations Open access

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6. 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

   Mirta Basha, B. Demeer, N. Revencu, R. Helaers +7 more

   2018Journal of Medical Genetics94 citations Open access

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7. PDGFRB gain‐of‐function mutations in sporadic infantile myofibromatosis

   Florence A. Arts, R. Sciot, B. Brichard, M. Renard +12 more

   2017Human Molecular Genetics94 citations Open access

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8. KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

   Nassim Homayun-Sepehr, Anna L. McCarter, R. Helaers, C. Galant +4 more

   2021JCI Insight77 citations Open access

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9. Reptilian-transcriptome v1.0, a glimpse in the brain transcriptome of five divergent Sauropsida lineages and the phylogenetic position of turtles

   Athanasia C. Tzika, R. Helaers, G. Schramm, M. Milinkovitch

   2011EvoDevo69 citations Open access

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10. Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma.

    R. Galot, C. van Marcke, R. Helaers, A. Mendola +7 more

    2020Oral Oncology62 citations Open access

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11. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

    N. Revencu, E. Fastré, M. Ravoet, R. Helaers +8 more

    2019Journal of Medical Genetics62 citations Open access

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12. 2× genomes - depth does matter

    M. Milinkovitch, R. Helaers, E. Depiereux, Athanasia C. Tzika +1 more

    2010Genome Biology62 citations Open access

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13. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

    P. Brouillard, M. Schlögel, Nassim Homayun Sepehr, R. Helaers +13 more

    2021Orphanet Journal of Rare Diseases47 citations Open access

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14. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

    Alicia B. Byrne, P. Brouillard, Drew L. Sutton, J. Kazenwadel +28 more

    2022Science Translational Medicine36 citations Open access

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15. SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation

    J. Dewulf, Elsa Wiame, I. Dorboz, M. Elmaleh-Bergès +15 more

    2019Annals of Neurology32 citations Open access

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16. Transcriptional drifts associated with environmental changes in endothelial cells

    Y. Afshar, F. Ma, Austin Quach, Anhyo Jeong +10 more

    2022bioRxiv30 citations Open access

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17. How to choose the right real-time RT-PCR primer sets for the SARS-CoV-2 genome detection?

    Ahalieyah Anantharajah, R. Helaers, J. Defour, N. Olivé +10 more

    2020Journal of Virological Methods25 citations Open access

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18. Splice‐site mutations in VEGFC cause loss of function and Nonne‐Milroy‐like primary lymphedema

    Elodie Fastre, Lydia-Elizabeth Lanteigne, R. Helaers, G. Giacalone +5 more

    2018Clinical Genetics20 citations

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19. KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors.

    L. Evenepoel, R. Helaers, L. Vroonen, S. Aydın +4 more

    2017Endocrine-Related Cancer18 citations Open access

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20. Historical Constraints on Vertebrate Genome Evolution

    M. Milinkovitch, R. Helaers, Athanasia C. Tzika

    2009Genome Biology and Evolution18 citations Open access

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21. MANTIS: a phylogenetic framework for multi-species genome comparisons

    Athanasia C. Tzika, R. Helaers, Y. Van de Peer, M. Milinkovitch

    2008Bioinform.15 citations Open access

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22. 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.

    N. Honoré, A. van der Elst, A. Dietz, C. van Marcke +10 more

    2023European Journal of Cancer14 citations Open access

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23. Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

    C. van Marcke, R. Helaers, A. de Leener, Ahmad Merhi +15 more

    2020Breast Cancer Research13 citations Open access

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24. Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients

    B. Demeer, N. Revencu, R. Helaers, C. Gbaguidi +5 more

    2019Genes13 citations Open access

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25. Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV).

    Martina De Bortoli, Angela Queisser, Van-Cuong Pham, A. Dompmartin +9 more

    2024Journal of Investigative Dermatology12 citations Open access

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26. Dysregulation of Rho GTPases in orofacial cleft patients-derived primary cells leads to impaired cell migration, a potential cause of cleft/lip palate development.

    M. El-Sibai, Joelle El Hajj, Maria Al Haddad, Nada El Baba +8 more

    2021Cells and Development12 citations Open access

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27. Meta-Analysis of Microarray Data of Rainbow Trout Fry Gonad Differentiation Modulated by Ethynylestradiol

    Sophie Depiereux, F. le Gac, B. de Meulder, Michael Pierre +4 more

    2015PLoS ONE12 citations Open access

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28. Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data

    S. Boutry, R. Helaers, T. Lenaerts, M. Vikkula

    2023PLoS Comput. Biol.11 citations Open access

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29. gViz, a novel tool for the visualization of co-expression networks

    R. Helaers, E. Bareke, B. de Meulder, Michael Pierre +3 more

    2011BMC Research Notes10 citations Open access

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30. First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing

    C. M. d'Avila-Levy, B. Bearzatto, J. Ambroise, R. Helaers +8 more

    2019Tropical Medicine and Infectious Disease9 citations Open access

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31. Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum

    Milena Atique Tacla, Matheus de Mello Copelli, Eleonore Pairet, I. Monlleó +6 more

    2023European Journal of Human Genetics7 citations Open access

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32. Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)

    Peyman Ranji, Eleonore Pairet, R. Helaers, B. Bayet +4 more

    2024European Journal of Human Genetics6 citations Open access

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33. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

    Martina De Bortoli, Marta Ivars, N. Revencu, M. Nassogne +9 more

    2024American Journal of Medical Genetics. Part A6 citations Open access

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34. Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants

    Murat Alpaslan, Sandrine Mestre-Godin, A. Lay, G. Giacalone +10 more

    2023Journal of Medical Genetics6 citations Open access

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35. Analysing ambiguities in trypanosomatids taxonomy by barcoding

    Carolina Boucinha, A. R. Caetano, H. Santos, R. Helaers +6 more

    2020Memórias do Instituto Oswaldo Cruz6 citations Open access

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36. Unmasking familial CPX by WES and identification of novel clinical signs

    B. Demeer, N. Revencu, R. Helaers, B. Devauchelle +3 more

    2018American Journal of Medical Genetics. Part A6 citations

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37. Rare variant association on unrelated individuals in case-control studies using aggregation tests: existing methods and current limitations

    S. Boutry, R. Helaers, Tom Lenaerts, M. Vikkula

    2023Briefings Bioinform.5 citations Open access

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38. Taming Aspect Composition: A Functional Approach

    R. Lopez-Herrejon, D. Batory, R. Helaers

    20055 citations

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39. A simple workflow to identify novel small linear motif (SLiM)-mediated interactions with AlphaFold

    Martin Veinstein, V. Janssens, Bogdan I. Iorga, R. Helaers +2 more

    2025bioRxiv4 citations Open access

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40. A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms

    Sophie Welsch, Antoine Harvengt, Paola Gallo, Manon Martin +8 more

    2024Diabetes & Metabolism Journal2 citations Open access

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41. SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

    Matheus de Mello Copelli, Eleonore Pairet, Milena Atique-Tacla, T. Vieira +4 more

    2023Genes2 citations Open access

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42. Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts.

    Matheus de Mello Copelli, Milena Atique-Tacla, Eleonore Pairet, Gabriela Roldão Correia-Costa +6 more

    2024Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery1 citations Open access

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43. Highlander: variant filtering made easy

    R. Helaers, M. Vikkula

    20181 citations Open access

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44. Highlander: variant filtering made easy

    R. Helaers, P. Brouillard, J. Soblet, Mustapha Amyere +2 more

    20171 citations

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45. [OP.6B.01] TWENTY-FOUR HOUR BLOOD PRESSURE PROFILE AND LEFT VENTRICULAR HYPERTROPHY IN HYPERTENSIVE PATIENTS WITH PRIMARY ALDOSTERONISM

    L. Evenepoel, R. Helaers, Laurent Vroonen, S. Aydın +4 more

    20171 citations

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46. Mapping Gene Gains and Losses Among Metazoan Full Genomes Using an Integrated Phylogenetic Framework

    Athanasia C. Tzika, R. Helaers, M. Milinkovitch

    20111 citations

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47. Mixed acid fermentation products from Lachnospira eligens counteract myotube atrophy

    S. Lecop, Edwige Piron, A. Neyrinck, A. Loriot +14 more

    2026bioRxiv0 citations Open access

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48. Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes

    A. Harvengt, Gauthier Pirlot, Leyan Denizli, Zain U. Syed +9 more

    2026Cells0 citations Open access

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49. Activating variants in PRKD2 in two families with Systemic sclerosis, and enrichment of rare variants in a sporadic series.

    P. Maus, G. Tilman, S. Boutry, A. Loriot +16 more

    2026medRxiv0 citations Open access

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50. Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

    Peyman Ranji, Eleonore Pairet, R. Helaers, P. Brouillard +4 more

    2025Human Mutation0 citations Open access

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