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1. • Article de périodique

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   Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

   Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, John B Enjolras, Odile Cordisco, Maria Rosa Burrows, Patricia E Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dubois, Josée Baselga, Eulalia Brancati, Francesco Carder, Robin Quintal, José Miguel Ceballos Dallapiccola, Bruno Fischer, Gayle Frieden, Ilona J Garzon, Maria Harper, John Johnson-Patel, Jennifer Labrèze, Christine Martorell, Loreto Paltiel, Harriet J Pohl, Annette Prendiville, Julie Quere, Isabelle Siegel, Dawn H Valente, Enza Maria Van Hagen, Annet Van Hest, Liselot Vaux, Keith K Vicente, Asuncion Weibel, Lisa Chitayat, David Vikkula, Miikka[UCL] (2008) Human Mutation — Vol. 29, no. 7, p. 959-965 (2008)
2. • Article de périodique

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   Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2.

   Ghalamkarpour, Arash Debauche, Christian[UCL] Haan, Eric Van Regemorter, Nicole Sznajer, Yves Thomas, Dominique Revencu, Nicole Gillerot, Yves Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2009) The Journal of pediatrics — Vol. 155, no. 1, p. 90-3 (2009)
3. • Article de périodique

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   De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

   Hoischen, Alexander Revencu, Nicole[UCL] van Bon, Bregje W. M. Gilissen, Christian Arts, Peer van Lier, Bart Steehouwer, Marloes de Vries, Petra de Reuver, Rick Wieskamp, Nienke Mortier, Geert Devriendt, Koen[UCL] Amorim, Marta Z. Kidd, Alexa Barbosa, Mafalda Turner, Anne Smith, Janine Oley, Christina Henderson, Alex Hayes, Ian M. Thompson, Elizabeth M. Brunner, Han G. de Vries, Bert B. A. Veltman, Joris A. (2010) Nature Genetics — Vol. 42, no. 6, p. 483-485 (2010)
4. • Article de périodique

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   Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

   Ferreira de Lima, Renata Hoper, Sarah Ghassibé, Michella[UCL] Cooper, Margaret Rorick, Nicholas Kondo, Shinji Katz, Lori Marazita, Mary Compton, John Bale, Sherri Hehr, Ute Dixon, Michael Daack-Hirsch, Sandra Boute, Odile Bayet, Bénédicte[UCL] Revencu, Nicole[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] Richieri-Costa, Antônio Moretti-Ferreira, Danilo Murray, Jeffrey Schutte, Brian (2009) Genetics in Medicine — Vol. 11, no. 4, p. 241-247 (2009)
5. • Article de périodique

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   A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies.

   Thiex, R Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mulliken, J B Burrows, P E Cordisco, M Dwight, Y Smith, E R Vikkula, Miikka[UCL] Orbach, D B (2009) AJNR. American journal of neuroradiology — Vol. 31, no. 4, p. 775-9 (2010)
6. • Article de périodique

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   Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

   Mbuyi-Musanzayi, Sébastien Kasamba, Eric I Revencu, Nicole[UCL] Lukusa, Prosper T Kalenga, Prosper M Tshilombo, François K Reychler, Hervé[UCL] Devriendt, Koenraad (2020) Clinical dysmorphology — Vol. 29, no.1, p. 24-27 (2020)
7. • Article de périodique

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   De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

   Reynhout, Sara Jansen, Sandra Haesen, Dorien van Belle, Siska de Munnik, Sonja A Bongers, Ernie M H F Schieving, Jolanda H Marcelis, Carlo Amiel, Jeanne Rio, Marlène Mclaughlin, Heather Ladda, Roger Sell, Susan Kriek, Marjolein Peeters-Scholte, Cacha M P C D Terhal, Paulien A van Gassen, Koen L Verbeek, Nienke Henry, Sonja Scott Schwoerer, Jessica Malik, Saleem Revencu, Nicole[UCL] Ferreira, Carlos R Macnamara, Ellen Braakman, Hilde M H Brimble, Elise Ruzhnikov, Maura R Z Wagner, Matias Harrer, Philip Wieczorek, Dagmar Kuechler, Alma Tziperman, Barak Barel, Ortal de Vries, Bert B A Gordon, Christopher T Janssens, Veerle Vissers, Lisenka E L M (2019) American journal of human genetics — Vol. 104, no. 1, p. 139-156 (2019)
8. • Article de périodique

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   Characterization of ANGPT2 mutations associated with primary lymphedema

   Leppänen, Veli-Matti Brouillard, Pascal[UCL] Korhonen, Emilia A Sipilä, Tuomas Jha, Sawan Kumar Revencu, Nicole[UCL] Labarque, Veerle Fastré, Elodie[UCL] Schlögel, Matthieu[UCL] Ravoet, Marie[UCL] Singer, Amihood Luzzatto, Claudia Angelone, Donatella Crichiutti, Giovanni D'Elia, Angela Kuurne, Jaakko Elamaa, Harri Koh, Gou Young Saharinen, Pipsa Vikkula, Miikka[UCL] Alitalo, Kari (2020) Science translational medicine — Vol. 12, no. 560, p. eaax8013 [1-11] (2020)
9. • Chapitre

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   Capillary malformation/arteriovenous malformation

   Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2020) Emery and Rimoin’s Principles and Practice in Medical Genetics — [ISBN : 9780128125366]
10. • Article de périodique

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

    Revencu, Nicole[UCL] Fastre, Elodie[UCL] Ravoet, Marie[UCL] Helaers, Raphaël[UCL] Brouillard, Pascal[UCL] Bisdorff-Bresson, Annouk Chung, Clara W T Gerard, Marion Dvorakova, Veronika Irvine, Alan D Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2020) Journal of Medical Genetics — Vol. 57, no. 1, p. 48-52 (2020)
11. • Article de périodique

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    PEDIA: prioritization of exome data by image analysis.

    Hsieh, Tzung-Chien Mensah, Martin A Pantel, Jean T Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi B Biskup, Saskia Borisov, Oleg Braaten, Oivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja Eden, Hilda David Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Đukić, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J Mangold, Elisabeth Reina, Purificación Marín Carrascal, Antonio Martinez Mitter, Diana Herrador, Laura Morlan Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole[UCL] Fagerberg, Christina Ringmann Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kyung Sznajer, Yves[UCL] Thiel, Christian T Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wiśniewska, Marzena Wollnik, Bernd Yeung, Ming W Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M (2019) Genetics in medicine — Vol. 21, no.12, p. 2807-2814 (2019)
12. • Article de périodique

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    Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis

    Sturiale, Luisa Nassogne, Marie-Cécile[UCL] Palmigiano, Angelo Messina, Angela Speciale, Immacolata Artuso, Rosangela Bertino, Gaetano Revencu, Nicole[UCL] Stéphenne, Xavier[UCL] De Castro, Cristina Matthijs, Gert Barone, Rita Jaeken, Jaak Garozzo, Domenico (2021) iScience — Vol. 24, no. 4, p. 102323 [1-22] (2021)
13. • Article de périodique

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    FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.

    Ghassibé, Michella[UCL] Desmyter, Laurence Langenberg, Tobias Claes, Filip Boute, Odile Bayet, Bénédicte[UCL] Pellerin, Philippe Hermans, Karlien Backx, Liesbeth Mansilla, Maria Adela Imoehl, Sandra Nowak, Stefanie Ludwig, Kerstin U Baluardo, Carlotta Ferrian, Melissa Mossey, Peter A Noethen, Markus Dewerchin, Mieke François, Geneviève Revencu, Nicole Vanwijck, Romain Hecht, Jacqueline Mangold, Elisabeth Murray, Jeffrey Rubini, Michele Vermeesch, Joris R Poirel, Hélène[UCL] Carmeliet, Peter Vikkula, Miikka (2011) American Journal of Human Genetics — Vol. 88, no. 2, p. 150-161 (2011)
14. • Article de périodique

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    MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

    Makrythanasis, P van Bon, Bw Steehouwer, M Rodríguez-Santiago, B Simpson, M Dias, P Anderlid, Bm Arts, P Bhat, M Augello, B Biamino, E Bongers, Emhf Del Campo, M Cordeiro, I Cueto-González, Am Cuscó, I Deshpande, C Frysira, E Izatt, L Flores, R Galán, E Gener, B Gilissen, C Granneman, Sm Hoyer, J Yntema, Hg Kets, Cm Koolen, DA Marcelis, Cl Medeira, A Micale, L Mohammed, S de Munnik, Sa Nordgren, A Psoni, S Reardon, W Revencu, Nicole[UCL] Roscioli, T Ruiterkamp-Versteeg, M Santos, Hg Schoumans, J Schuurs-Hoeijmakers, Jhm Silengo, Mc Toledo, L Vendrell, T van der Burgt, I van Lier, B Zweier, C Reymond, A Trembath, Rc Perez-Jurado, L Dupont, J de Vries, Bba Brunner, Hg Veltman, Ja Merla, G Antonarakis, Se Hoischen, A (2013) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 84, no. 6, p. 539-545 (2013)
15. • Article de périodique

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    CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

    Legendre, Marine Rodriguez - Ballesteros, Montserrat Rossi, Massimiliano Abadie, Véronique Amiel, Jeanne Revencu, Nicole[UCL] Blanchet, Patricia Brioude, Frédéric Delrue, Marie-Ange Doubaj, Yassamine Sefiani, Abdelaziz Francannet, Christine Holder-Espinasse, Muriel Jouk, Pierre-Simon Julia, Sophie Melki, Judith Mur, Sébastien Naudion, Sophie Fabre-Teste, Jennifer Busa, Tiffany Stamm, Stephen Lyonnet, Stanislas Attie-Bitach, Tania Kitzis, Alain Gilbert-Dussardier, Brigitte Bilan, Frédéric (2018) European Journal of Human Genetics — Vol. 26, no. 2, p. 287-292 (2018)
16. • Article de périodique

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    Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

    Ghassibé, Michella[UCL] Bayet, Benedicte Revencu, Nicole Dumoulin, Christine[UCL] Gillerot, Yves Vanwijck, Romain[UCL] Vikkula, Miikka[UCL] (2005) European journal of human genetics : EJHG — Vol. 13, no. 11, p. 1239-42 (2005)
17. • Article de périodique

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    Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

    Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Bayet, Bénédicte[UCL] Gillerot, Yves[UCL] Vanwijck, Romain[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] (2004) Journal of Medical Genetics — Vol. 41, no. 2, p. 1-5 (2004)
18. • Article de périodique

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    Cerebral cavernous malformation: new molecular and clinical insights.

    Revencu, Nicole[UCL] Vikkula, Miikka[UCL] (2006) Journal of Medical Genetics — Vol. 43, no. 9, p. 716-721 (2006)
19. • Article de périodique

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    Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

    Revencu, Nicole[UCL] Detaille, Thierry[UCL] Quenum, Geneviève[UCL] De Paepe, Anne Dumoulin, Christine[UCL] Verellen, Gaston[UCL] (2004) European Journal of Pediatrics — Vol. 163, no. 1, p. 33-37 (2004)
20. • Communication

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    The Belgian MicroArray Prenatal (BEMAPRE) database [Online Abstract]

    Muys,, J. Janssens, K. Vanakker, O. Vilain, C. Smits, G. Bandelier, Claude[UCL] Bulk, S. Caberg, J. De Leener, A. De Rademaeker, M. de Ravel de l'Argentière, T. Desir, J. Destree, A. Dheedene, A. Gaillez, S. Grisart, B. Hellin, A. Janssens, S. Keymolen, K. Menten, B. Pichon, B. Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, S. Staessens, C. Van Den Bogaert, A. Van Den Bogaert, K. Vermeesch, J. Sznajer, Yves[UCL] Blaumeiser, B. Jacquemyn, Y. Devriendt, K. (2015) European Human Genetics Conference 2015 — (Scotland) Glasgow
21. • Article de périodique

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    Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

    Vanakker, Olivier Vilain, Catheline Janssens, Katrien Van der Aa, Nathalie Smits, Guillaume Bandelier, Claude[UCL] Blaumeiser, Bettina Bulk, Saskia Caberg, Jean-Hubert De Leener, Anne De Rademaeker, Marjan de Ravel, Thomy Desir, Julie Destree, Anne Dheedene, Annelies Gaillez, Stéphane Grisart, Bernard Hellin, Ann-Cécile Janssens, Sandra Keymolen, Kathelijn Menten, Björn Pichon, Bruno Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, Sonia Staessens, Catherine Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris R. Kooy, Frank Sznajer, Yves[UCL] Devriendt, Koen (2014) European Journal of Medical Genetics — Vol. 57, no. 4, p. 151-156 (2014)
22. • Article de périodique

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    Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

    Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Bayet, Bénédicte[UCL] Gillerot, Y.[UCL] Vanwijck, Romain[UCL] Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] (2003) Human genetics — Vol. 113, no. 6, p. 556-558 (2003)
23. • Article de périodique

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    Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

    Bloch, Mercedes[UCL] Leonard, Anissa[UCL] Diplas, Andreas[UCL] Pepermans, Xavier[UCL] Emanuel, Beverly S Santa Rocca, Maria Revencu, Nicole[UCL] Sznajer, Yves (2014) American Journal of Medical Genetics. Part A — Vol. 164, no.7, p. 1789-1794 (2014)
24. • Article de périodique

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    Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

    Urquhart, Jill Roberts, Rebecca de Silva, Deepthi Shalev, Stavit Chervinsky, Elena Nampoothiri, Sheela Sznajer, Yves[UCL] Revencu, Nicole Gunasekera, Romesh Suri, Mohnish Ellingford, Jamie Williams, Simon Bhaskar, Sanjeev Clayton-Smith, Jill (2016) American journal of medical genetics. Part A — Vol. 170A, no.5, p. 1216-24 (2016)
25. • Article de périodique

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    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

    Vissers, Lisenka E L M Kalvakuri, Sreehari de Boer, Elke Geuer, Sinje Oud, Machteld van Outersterp, Inge Kwint, Michael Witmond, Melde Kersten, Simone Polla, Daniel L Weijers, Dilys Begtrup, Amber McWalter, Kirsty Ruiz, Anna Gabau, Elisabeth Morton, Jenny E V Griffith, Christopher Weiss, Karin Gamble, Candace Bartley, James Vernon, Hilary J Brunet, Kendra Ruivenkamp, Claudia Kant, Sarina G Kruszka, Paul Larson, Austin Afenjar, Alexandra Billette de Villemeur, Thierry Nugent, Kimberly DDD Study Raymond, F Lucy Venselaar, Hanka Demurger, Florence Soler-Alfonso, Claudia Li, Dong Bhoj, Elizabeth Hayes, Ian Hamilton, Nina Powell Ahmad, Ayesha Fisher, Rachel van den Born, Myrthe Willems, Marjolaine Sorlin, Arthur Delanne, Julian Moutton, Sebastien Christophe, Philippe Mau-Them, Frederic Tran Vitobello, Antonio Goel, Himanshu Massingham, Lauren Phornphutkul, Chanika Schwab, Jennifer Keren, Boris Charles, Perrine Vreeburg, Maaike De Simone, Lenika Hoganson, George Iascone, Maria Milani, Donatella Evenepoel, Lucie[UCL] Revencu, Nicole[UCL] Ward, D Isum Burns, Kaitlyn Krantz, Ian Raible, Sarah E Murrell, Jill R Wood, Kathleen Cho, Megan T van Bokhoven, Hans Muenke, Maximilian Kleefstra, Tjitske Bodmer, Rolf de Brouwer, Arjan P M (2020) American journal of human genetics — Vol. 107, no.1, p. 164-172 (2020)

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