All Publications

Pages

1. • Journal article

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   Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

   Meester, Josephina A N Hebert, Anne Bastiaansen, Maaike Rabaut, Laura Bastianen, Jarl Boeckx, Nele Ashcroft, Kathryn Atwal, Paldeep S Benichou, Antoine Billon, Clarisse Blankensteijn, Jan D Brennan, Paul Bucks, Stephanie A Campbell, Ian M Conrad, Solène Curtis, Stephanie L Dasouki, Majed Dent, Carolyn L Eden, James Goel, Himanshu Hartill, Verity Houweling, Arjan C Isidor, Bertrand Jackson, Nicola Koopman, Pieter Korpioja, Anita Kraatari-Tiri, Minna Kuulavainen, Liina Lee, Kelvin Low, Karen J Lu, Alan C McManus, Morgan L Oakley, Stephen P Oliver, James Organ, Nicole M Overwater, Eline Revencu, Nicole[UCL] Trainer, Alison H Trivedi, Bhavya Turner, Claire L S Whittington, Rebecca Zankl, Andreas Zentner, Dominica Van Laer, Lut Verstraeten, Aline Loeys, Bart L (2024) NPJ genomic medicine — Vol. 9, no.1, p. 22 (2024)
2. • Journal article

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   De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Chen, Yuyang Dawes, Ruebena Kim, Hyung Chul Ljungdahl, Alicia Stenton, Sarah L Walker, Susan Lord, Jenny Lemire, Gabrielle Martin-Geary, Alexandra C Ganesh, Vijay S Ma, Jialan Ellingford, Jamie M Delage, Erwan D'Souza, Elston N Dong, Shan Adams, David R Allan, Kirsten Bakshi, Madhura Baldwin, Erin E Berger, Seth I Bernstein, Jonathan A Bhatnagar, Ishita Blair, Ed Brown, Natasha J Burrage, Lindsay C Chapman, Kimberly Coman, David J Compton, Alison G Cunningham, Chloe A D'Souza, Precilla Danecek, Petr Délot, Emmanuèle C Dias, Kerith-Rae Elias, Ellen R Elmslie, Frances Evans, Care-Anne Ewans, Lisa Ezell, Kimberly Fraser, Jamie L Gallacher, Lyndon Genetti, Casie A Goriely, Anne Grant, Christina L Haack, Tobias Higgs, Jenny E Hinch, Anjali G Hurles, Matthew E Kuechler, Alma Lachlan, Katherine L Lalani, Seema R Lecoquierre, François Leitão, Elsa Fevre, Anna Le Leventer, Richard J Liebelt, Jan E Lindsay, Sarah Lockhart, Paul J Ma, Alan S Macnamara, Ellen F Mansour, Sahar Maurer, Taylor M Mendez, Hector R Metcalfe, Kay Montgomery, Stephen B Moosajee, Mariya Nassogne, Marie-Cécile Neumann, Serena O'Donoghue, Michael O'Leary, Melanie Palmer, Elizabeth E Pattani, Nikhil Phillips, John Pitsava, Georgia Pysar, Ryan Rehm, Heidi L Reuter, Chloe M Revencu, Nicole[UCL] Riess, Angelika Rius, Rocio Rodan, Lance Roscioli, Tony Rosenfeld, Jill A Sachdev, Rani Shaw-Smith, Charles J Simons, Cas Sisodiya, Sanjay M Snell, Penny St Clair, Laura Stark, Zornitza Stewart, Helen S Tan, Tiong Yang Tan, Natalie B Temple, Suzanna E L Thorburn, David R Tifft, Cynthia J Uebergang, Eloise VanNoy, Grace E Vasudevan, Pradeep Vilain, Eric Viskochil, David H Wedd, Laura Wheeler, Matthew T White, Susan M Wojcik, Monica Wolfe, Lynne A Wolfenson, Zoe Wright, Caroline F Xiao, Changrui Zocche, David Rubenstein, John L Markenscoff-Papadimitriou, Eirene Fica, Sebastian M Baralle, Diana Depienne, Christel MacArthur, Daniel G Howson, Joanna M M Sanders, Stephan J O'Donnell-Luria, Anne Whiffin, Nicola (2024) Nature — Vol. 632, no.8026, p. 832-840 (2024)
3. • Journal article

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   Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin.

   Adham, Salma Revencu, Nicole[UCL] Mestre, Sandrine Nou-Howaldt, Monira Vernhet-Kovacsik, Hélène Quéré, Isabelle (2022) Molecular genetics & genomic medicine — Vol. 10, no. 6, p. e1931 [1-4] (2022)
4. • Journal article

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   Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

   Vegas, Nancy Demir, Zeynep Gordon, Christopher T Breton, Sylvain Romanelli Tavares, Vanessa L Moisset, Hugo Zechi-Ceide, Roseli Kokitsu-Nakata, Nancy M Kido, Yasuhiro Marlin, Sandrine Gherbi Halem, Souad Meerschaut, Ilse Callewaert, Bert Chung, Brian Revencu, Nicole[UCL] Lehalle, Daphné Petit, Florence Propst, Evan J Papsin, Blake C Phillips, John H Jakobsen, Linda Le Tanno, Pauline Thévenon, Julien McGaughran, Julie Gerkes, Erica H Leoni, Chiara Kroisel, Peter Tan, Tiong Y Henderson, Alex Terhal, Paulien Basel-Salmon, Lina Alkindy, Adila White, Susan M Passos-Bueno, Maria R Pingault, Véronique De Pontual, Loïc Amiel, Jeanne (2022) Human mutation — Vol. 43, no. 5, p. 582-594 (2022)
5. • Journal article

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   Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.

   Jacquemin, Valerie Versbraegen, Nassim Duerinckx, Sarah Massart, Annick Soblet, Julie Perazzolo, Camille Deconinck, Nicolas Brischoux-Boucher, Elise De Leener, Anne[UCL] Revencu, Nicole[UCL] Janssens, Sandra Moorgat, Stèphanie Blaumeiser, Bettina Avela, Kristiina Touraine, Renaud Abou Jaoude, Imad Keymolen, Kathelijn Saugier-Veber, Pascale Lenaerts, Tom Abramowicz, Marc Pirson, Isabelle (2023) Human genomics — Vol. 17, no. 1, p. 16 [1-14] (2023)
6. • 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)
7. • Journal article

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   Genotypes and Phenotypes of 162 Families with a Glomulin Mutation.

   Brouillard, Pascal[UCL] Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Berg, J Dompmartin, A Dubois, J Garzon, M Holden, S Kangesu, L Labrèze, C Lynch, S A McKeown, C Meskauskas, R Quere, I Syed, S Vabres, P Wassef, M Mulliken, J B Vikkula, Miikka[UCL] (2013) Molecular syndromology — Vol. 4, no.4, p. 157-164 (2013)
8. • Journal article

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   Direct oral anticoagulants and venous malformations: literature review and retrospective study of 29 patients

   Lagneaux, Eugénie[UCL] Boon, Laurence M.[UCL] Revencu, Nicole[UCL] Vikkula, Miikka[UCL] Hermans, Cédric[UCL] (2024) Research and practice in thrombosis and haemostasis — Vol. 8, no. 3, p. 102400 [1-8] (2024)
9. • 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)
10. • Journal article

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    Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

    Revencu, Nicole[UCL] Eijkelenboom, Astrid Bracquemart, Claire Alhopuro, Pia Armstrong, Judith Baselga, Eulalia Cesario, Claudia Dentici, Maria Lisa Eyries, Melanie Frisk, Sofia[UCL] Karstensen, Helena Gásdal Gene-Olaciregui, Nagore Kivirikko, Sirpa Lavarino, Cinzia Mero, Inger-Lise Michiels, Rodolphe Pisaneschi, Elisa Schönewolf-Greulich, Bitten Wieland, Ilse Zenker, Martin Vikkula, Miikka[UCL] (2024) Orphanet Journal of Rare Diseases — Vol. 19, no.1, p. 213 (2024)
11. • Journal article

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    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

    Tessadori, Federico Duran, Karen Knapp, Karen Fellner, Matthias Deciphering Developmental Disorders Study Smithson, Sarah Beleza Meireles, Ana Elting, Mariet W Waisfisz, Quinten O'Donnell-Luria, Anne Nowak, Catherine Douglas, Jessica Ronan, Anne Brunet, Theresa Kotzaeridou, Urania Svihovec, Shayna Saenz, Margarita S Thiffault, Isabelle Del Viso, Florencia Devine, Patrick Rego, Shannon Tenney, Jessica van Haeringen, Arie Ruivenkamp, Claudia A L Koene, Saskia Robertson, Stephen P Deshpande, Charulata Pfundt, Rolph Verbeek, Nienke van de Kamp, Jiddeke M Weiss, Janneke M M Ruiz, Anna Gabau, Elisabeth Banne, Ehud Pepler, Alexander Bottani, Armand Laurent, Sacha Guipponi, Michel Bijlsma, Emilia Bruel, Ange-Line Sorlin, Arthur Willis, Mary Powis, Zoe Smol, Thomas Vincent-Delorme, Catherine Baralle, Diana Colin, Estelle Revencu, Nicole[UCL] Calpena, Eduardo Wilkie, Andrew O M Chopra, Maya Cormier-Daire, Valerie Keren, Boris Afenjar, Alexandra Niceta, Marcello Terracciano, Alessandra Specchio, Nicola Tartaglia, Marco Rio, Marlene Barcia, Giulia Rondeau, Sophie Colson, Cindy Bakkers, Jeroen Mace, Peter D Bicknell, Louise S van Haaften, Gijs (2022) American journal of human genetics — Vol. 109, no. 4, p. 750-758 (2022)
12. • Journal article

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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)
13. • Dissertation

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    RASA1-related phenotypes and possible pathophysiological mechanism

    Revencu, Nicole[UCL] (2012)
14. • Journal article

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    Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

    Harvengt, Julie Wanty, Catherine[UCL] de Paepe, Boel Sempoux, Christine[UCL] Revencu, Nicole[UCL] Smet, Joel van Coster, Rudy Lissens, Willy Seneca, Sara Weekers, Laurent Sokal, Etienne[UCL] Debray, François-Guillaume (2014) Molecular Genetics and Metabolism — Vol. 1, p. 223-231 (2014)
15. • Journal article

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    No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

    Schlögel, Matthieu[UCL] Mendola, Antonella[UCL] Fastre, Elodie[UCL] Vasudevan, Pradeep Devriendt, Koen de Ravel, Thomy Jl Van Esch, Hilde Casteels, Ingele Arroyo Carrera, Ignacio Cristofoli, Francesca Fieggen, Karen Jones, Katheryn Lipson, Mark Balikova, Irina Singer, Ami Soller, Maria Mercedes Villanueva, María Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Brouillard, Pascal[UCL] Vikkula, Miikka[UCL] (2015) Orphanet Journal of Rare Diseases — Vol. 10, no. 1, p. 52 (2015)
16. • Journal article

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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)
17. • Journal article

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    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

    Briggs, Tracy A. Rice, Gillian I. Adib, Navid Ades, Lesley Barete, Stephane Baskar, Kannan Baudouin, Veronique Cebeci, Ayse N. Clapuyt, Philippe[UCL] Coman, David De Somer, Lien Finezilber, Yael Frydman, Moshe Guven, Ayla Heritier, Sébastien Karall, Daniela Kulkarni, Muralidhar L. Lebon, Pierre Levitt, David Le Merrer, Martine Linglart, Agnes Livingston, John H. Navarro, Vincent Okenfuss, Ericka Puel, Anne Revencu, Nicole[UCL] Scholl-Bürgi, Sabine Vivarelli, Marina Wouters, Carine Bader-Meunier, Brigitte Crow, Yanick J. (2016) Journal of Clinical Immunology — Vol. 36, no. 3, p. 220-234 (2016)
18. • Journal article

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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)
19. • Journal article

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    Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

    Schaballie, Heidi Renard, Marleen Vermylen, Christiane[UCL] Scheers, Isabelle[UCL] Revencu, Nicole[UCL] Regal, Luc Cassiman, David Sevenants, Lieve Hoffman, Ilse Corveleyn, Anniek Bordon, Victoria Haerynck, Filomeen Allegaert, Karel De Boeck, Kris Roskams, Tania Boeckx, Nancy Bossuyt, Xavier Meyts, Isabelle (2013) European Journal of Pediatrics — Vol. 172, no. 5, p. 613-622 (2013)
20. • Journal article

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    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    Banka, Siddharth Veeramachaneni, Ratna Reardon, William Howard, Emma Bunstone, Sancha Ragge, Nicola Parker, Michael J Crow, Yanick J Kerr, Bronwyn Kingston, Helen Metcalfe, Kay Chandler, Kate Magee, Alex Stewart, Fiona McConnell, Vivienne P M Donnelly, Deirdre E Berland, Siren Houge, Gunnar Morton, Jenny E Oley, Christine Revencu, Nicole[UCL] Park, Soo-Mi Davies, Sally J Fry, Andrew E Lynch, Sally Ann Gill, Harinder Schweiger, Susann Lam, Wayne W K Tolmie, John Mohammed, Shehla N Hobson, Emma Smith, Audrey Blyth, Moira Bennett, Christopher Vasudevan, Pradeep C García-Miñaúr, Sixto Henderson, Alex Goodship, Judith Wright, Michael J Fisher, Richard Gibbons, Richard Price, Susan M C de Silva, Deepthi Temple, I Karen Collins, Amanda L Lachlan, Katherine Elmslie, Frances McEntagart, Meriel Castle, Bruce Clayton-Smith, Jill Black, Graeme C Donnai, Dian (2012) European Journal of Human Genetics — Vol. 20, no.4, p. 381-388 (2011)
21. • Speech

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    Retargeting of Bile Salt Export Pump (BSEP) and criteria of favourable outcome in children with Progressive Familial Intrahepatic Cholestasis type II (PFIC-II)

    Varma, Sharat[UCL] Revencu, Nicole[UCL] Stéphenne, Xavier[UCL] Scheers, Isabelle[UCL] Smets, Françoise[UCL] Beleza-Meireles, A[UCL] Reding, Raymond[UCL] Roskams, Tania Sokal, Etienne[UCL] (2015) Belgian Week of Gastroenterology — Square Meeting Center Brussels
22. • Journal article

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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)
23. • Journal article

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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)
24. • Journal article

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    Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

    Varma, Sharat[UCL] Revencu, Nicole[UCL] Stéphenne, Xavier[UCL] Scheers, Isabelle[UCL] Smets, Françoise[UCL] Beleza-Meireles, Ana[UCL] Reding, Raymond[UCL] Roskams, Tania Sokal, Etienne[UCL] (2015) Hepatology — Vol. 62, no. 1, p. 198-206 (2015)
25. • Journal article

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    Diverticulose vésicale liée à un syndrome de la corne occipitale

    Legros, Ludovic[UCL] Revencu, Nicole[UCL] Nassogne, Marie-Cécile[UCL] Wese, François-Xavier[UCL] Feyaerts, Axel[UCL] (2015) Archives de pédiatrie — Vol. 22, no.11, p. 1147-1150 (2015)

Pages