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1. • Journal article

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   Somatic Activating PIK3CA Mutations Cause Venous Malformation

   Limaye, Nisha[UCL] Kangas, Jaakko Mendola, Antonella[UCL] Godfraind, Catherine Schlögel, Matthieu[UCL] Helaers, Raphaël[UCL] Eklund, Lauri Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2015) American Journal of Human Genetics — Vol. 97, no. 6, p. 914-921 (2015)
2. • Journal article

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

   Soblet, Julie[UCL] Kangas, Jaakko Nätynki, Marjut Mendola, Antonella[UCL] Helaers, Raphaël[UCL] 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.[UCL] Vikkula, Miikka[UCL] (2017) The Journal of Investigative Dermatology — Vol. 137, no. 1, p. 207-216 (2017)
3. • Journal article

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

   Fastre, Elodie[UCL] Lanteigne, Lydia-Elizabeth[UCL] Helaers, Raphaël[UCL] Giacalone, Guido Revencu, Nicole[UCL] Dionyssiou, Dimitris Demiri, Efterpi Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2018) Clinical Genetics — Vol. 94, no. 1, p. 179-181 (2018)
4. • Speech

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   Liquid biopsy for mutational profiling of locoregional recurrent (LR) and/or metastatic (M) squamous cell carcinoma of the head and neck (SCCHN)

   Galot, Rachel[UCL] van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Mendola, Antonella[UCL] Goebbels, Rose-Marie[UCL] Caignet, Xavier[UCL] Ambroise, Jérôme[UCL] Wittouck, Kyril[UCL] Vikkula, Miikka[UCL] Limaye, Nisha[UCL] Machiels, Jean-Pascal[UCL] (2019) ESMO — Barcelona
5. • Speech

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   Tumor sequencing is useful to reclassify germline variants in unexplained high-risk breast cancer

   van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Schoonjans, Céline[UCL] Berlière, Martine[UCL] De Leener, Anne[UCL] canon, Jean-Luc Vuylsteke, Peter[UCL] Machiels, Jean-Pascal[UCL] Limaye, Nisha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2019) San Antonio Breast Cancer Symposium — San Antonio
6. • Speech

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   Clinical utility of deciphering the genetic background of high-risk BRCA 1/2 mutation-negative breast cancer patients

   van Marcke, Cédric[UCL] Schoonjans, Céline[UCL] Helaers, Raphaël[UCL] Amyere, Mustapha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2016) Annual Meeting of the Belgian Society of Medical Oncology — Diegem
7. • Journal article

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

   Galot, Rachel[UCL] van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Mendola, Antonella[UCL] Goebbels, Rose-Marie[UCL] Caignet, Xavier[UCL] Ambroise, Jérôme[UCL] Wittouck, Kyril[UCL] Vikkula, Miikka[UCL] Limaye, Nisha[UCL] Machiels, Jean-Pascal[UCL] (2020) Oral oncology — Vol. 104, p. 104631 (2020)
8. • Speech

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   Co-segregation of rare possibly-damaging variants in cancer-related genes correlates with phenotypic homogeneity in familial breast cancer

   van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Schoonjans, Céline[UCL] Ambroise, Jérôme[UCL] Berlière, Martine[UCL] canon, Jean-Luc Vuylsteke, Peter[UCL] Machiels, Jean-Pascal[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2019) San Antonio Breast Cancer Symposium — San Antonio
9. • Speech

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   Segregation and tumor phenotype analyses are helpful to filter out rare germline variants in high-risk BRCA 1/2 mutation-negative breast cancer families

   van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2017) Annual Meeting of the Belgian Society of Human Genetics — Louvain-la-Neuve
10. • Speech

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    Deciphering the genetic background of high-risk BRCA 1/2 mutation-negative breast cancer patients

    van Marcke, Cédric[UCL] Schoonjans, Céline[UCL] Helaers, Raphaël[UCL] Amyere, Mustapha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2016) First Joint Meeting of the Belgian Society of Human Genetics & Dutch Society for Human Genetics — Leuven
11. • Journal article

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    Unmasking Familial CPX by WES and Identification of Novel Clinical Signs

    Demeer, Bénédicte[UCL] Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Devauchelle, Bernard François, Geneviève[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2018) American journal of medical genetics. Part A — Vol. 176, no. 12, p. 2661-2667 (2018)
12. • Journal article

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

    Demeer, Bénédicte Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Gbaguidi, Cica Dakpe, Stéphanie François, Geneviève[UCL] Devauchelle, Bernard Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2019) Genes — Vol. 10, no. 10, p. 833 [1-9] (2019)
13. • Journal article

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    PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

    Arts, Florence[UCL] Sciot, Raf Brichard, Bénédicte[UCL] Renard, Marleen de Rocca Serra, Audrey[UCL] Dachy, Guillaume[UCL] Noël, Laura A[UCL] Velghe, Amélie[UCL] Galant, Christine[UCL] Debiec-Rychter, Maria Van Damme, An[UCL] Vikkula, Miikka[UCL] Helaers, Raphaël[UCL] Limaye, Nisha[UCL] Antoine, Hélène[UCL] Demoulin, Jean-Baptiste[UCL] (2017) Human Molecular Genetics — Vol. 26, no. 10, p. 1801-1810 (2017)
14. • Journal article

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

    Evenepoel, Lucie[UCL] Helaers, Raphaël[UCL] Vroonen, Laurent Aydin, Selda[UCL] Hamoir, Marc[UCL] Maiter, Dominique[UCL] Vikkula, Miikka[UCL] Persu, Alexandre[UCL] (2017) Endocrine - Related Cancer — Vol. 24, no. 8, p. L57-L61 (2017)
15. • Journal article

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

    Copelli, Matheus de Mello Pairet, Eleonore[UCL] Atique-Tacla, Milena Vieira, Társis Paiva Appenzeller, Simone Helaers, Raphaël[UCL] Vikkula, Miikka[UCL] Gil-da-Silva-Lopes, Vera Lúcia (2023) Genes — Vol. 14, no.4, p. 882 (2023)
16. • Journal article

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

    van Marcke, Cédric[UCL] Helaers, Raphaël[UCL] De Leener, Anne[UCL] Merhi, Ahmad[UCL] Schoonjans, Céline Ambroise, Jérôme[UCL] Galant, Christine[UCL] Delrée, Paul Rothé, Françoise Bar, Isabelle Khoury, Elsa[UCL] Brouillard, Pascal[UCL] Canon, Jean-Luc Vuylsteke, Peter[UCL] Machiels, Jean-Pascal[UCL] Berliere, Martine[UCL] Limaye, Nisha[UCL] Vikkula, Miikka[UCL] Duhoux, François[UCL] (2020) Breast cancer research — Vol. 22, no. 1, p. 36 (2020)
17. • Journal article

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

    Boutry, Simon[UCL] Helaers, Raphaël[UCL] Lenaerts, Tom Vikkula, Miikka[UCL] (2023) Briefings in Bioinformatics — Vol. 24, no.6 (2023)
18. • Journal article

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

    Atique Tacla, Milena de Mello Copelli, Matheus Pairet, Eleonore[UCL] Lopes Monlleó, Isabella Marques Ribeiro, Erlane Lustosa Mendes, Elaine Helaers, Raphaël[UCL] Vieira, Tarsis Paiva Vikkula, Miikka[UCL] Gil-da-Silva-Lopes, Vera Lúcia (2023) European Journal of Human Genetics — (2023)
19. • Journal article

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

    Byrne, Alicia B. Brouillard, Pascal[UCL] Sutton, Drew L. Kazenwadel, Jan 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[UCL] Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Moore, Lynette Barnett, Christopher Haan, Eric Arts, Peer Vikkula, Miikka[UCL] Scott, Hamish S. Harvey, Natasha L. (2022) Science translational medicine — Vol. 14, no. 634, p. eabm486 [1-14] (2022)
20. • Journal article

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

    De Bortoli, Martina[UCL] Queisser, Angela[UCL] Pham, Van Cuong Dompmartin, Anne Helaers, Raphaël[UCL] Boutry, Simon[UCL] Claus, Cathy[UCL] De Roo, An-Katrien[UCL] Hammer, Frank[UCL] Brouillard, Pascal[UCL] Abdelilah-Seyfried, Salim Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2024) Journal of Investigative Dermatology — (2024)
21. • Journal article

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

    De Bortoli, Martina[UCL] Ivars, Marta Revencu, Nicole[UCL] Nassogne, Marie-Cécile[UCL] Lavarino, Cinzia Paco, Sonia Lammens, Martin Renders, Anne[UCL] Dumitriu, Dana Ioana[UCL] Helaers, Raphaël[UCL] Boon, Laurence M.[UCL] Baselga, Eulalia Vikkula, Miikka[UCL] (2024) American Journal of Medical Genetics Part A — (2024)
22. • Journal article

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

    Welsch, Sophie Harvengta, Antoine Gallo, Paola[UCL] Martin, Manon[UCL] Beckers, Dominique[UCL] MOURAUX, Thierry[UCL] Seret, Nicole Lebrethon, Marie-Christine Helaers, Raphaël[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] Lysy, Philippe[UCL] (2024) Diabetes & Metabolism Journal — (2024)
23. • Journal article

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    Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.

    Amyere, Mustapha[UCL] Revencu, Nicole[UCL] Helaers, Raphaël[UCL] Pairet, Eleonore[UCL] 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.[UCL] Vikkula, Miikka[UCL] (2017) Circulation — Vol. 136, no. 11, p. 1037-1048 (2017)
24. • Journal article

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    Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3

    Brouillard, Pascal[UCL] Dupont, Laura Helaers, Raphaël[UCL] Coulie, Richard[UCL] Tiller, George E. Peeden, Joseph Colige, Alain Vikkula, Miikka[UCL] (2017) Human Molecular Genetics — Vol. 26, no. 21, p. 4095-4104 (2017)
25. • Journal article

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    Ureteropelvic junction obstruction with primary lymphoedema associated with<i>CELSR1</i>variants

    Alpaslan, Murat[UCL] Mestré-Godin, Sandrine Lay, Aurélie Giacalone, Guido[UCL] Helaers, Raphaël[UCL] Adham, Salma[UCL] Kovacsik, Hélène Guillemard, Sophie Mercier, Erick Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Brouillard, Pascal[UCL] Quere, Isabelle Vikkula, Miikka[UCL] (2023) Journal of Medical Genetics — Vol. x, no.x, p. jmg-2023-109171 (2023)

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