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1. • Journal article

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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)
2. • Journal article

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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)
3. • Journal article

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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)
4. • Journal article

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   Heredity of port-wine stains: investigation of families without a RASA1 mutation.

   Troilius Rubin, Agneta Lauritzen, Edgar Ljunggren, Bo Revencu, Nicole[UCL] Vikkula, Miikka[UCL] Svensson, Åke (2015) Journal of Cosmetic and Laser Therapy — Vol. 17, no.4, p. 204-208 (2015)
5. • Journal article

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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)
6. • Journal article

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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)
7. • Journal article

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   RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

   Revencu, Nicole[UCL] Boon, Laurence M.[UCL] Mendola, Antonella[UCL] Cordisco, Maria Rosa Dubois, Josée Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Amor, David J Irvine, Alan D Baselga, Eulalia Dompmartin, Anne Syed, Samira Martin-Santiago, Ana Ades, Lesley Collins, Felicity Smith, Janine Sandaradura, Sarah Barrio, Victoria R Burrows, Patricia E Blei, Francine Cozzolino, Mariarosaria Brunetti-Pierri, Nicola Vicente, Asuncion Abramowicz, Marc Désir, Julie Vilain, Catheline Chung, Wendy K Wilson, Ashley Gardiner, Carol A Dwight, Yim Lord, David J E Fishman, Leona Cytrynbaum, Cheryl Chamlin, Sarah Ghali, Fred Gilaberte, Yolanda Joss, Shelagh Boente, Maria Del C Léauté-Labrèze, Christine Delrue, Marie-Ange Bayliss, Susan Martorell, Loreto González-Enseñat, Maria-Antonia Mazereeuw-Hautier, Juliette O'Donnell, Brid Bessis, Didier Pyeritz, Reed E Salhi, Aicha Tan, Oon T Wargon, Orli Mulliken, John B Vikkula, Miikka[UCL] (2013) Human Mutation — Vol. 34, no.12, p. 1632-1641 (2013)
8. • Journal article

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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)
9. • Journal article

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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)
10. • Journal article

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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)
11. • Journal article

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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)
12. • Journal article

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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)
13. • Journal article

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    Complete Revascularization vs Culprit Lesion-Only Percutaneous Coronary Intervention for Angina-Related Quality of Life in Patients With ST-Segment Elevation Myocardial Infarction: Results From the COMPLETE Randomized Clinical Trial.

    Mehta, Shamir R Wang, Jia Wood, David A Spertus, John A Cohen, David J Mehran, Roxana Storey, Robert F Steg, Philippe Gabriel Pinilla-Echeverri, Natalia Sheth, Tej Bainey, Kevin R Bangalore, Sripal Cantor, Warren J Faxon, David P Feldman, Laurent J Jolly, Sanjit S Kunadian, Vijay Lavi, Shahar Lopez-Sendon, Jose Madan, Mina Moreno, Raul Rao, Sunil V Rodés-Cabau, Josep Stankovic, Goran Bangdiwala, Shrikant I Cairns, John A COMPLETE Trial Investigators Guédès, Antoine[UCL] (2022) JAMA cardiology — Vol. 7, no.11, p. 1091-1099 (2022)
14. • Journal article

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    Intravenous glibenclamide for cerebral oedema after large hemispheric stroke (CHARM): a phase 3, double-blind, placebo-controlled, randomised trial.

    Sheth, Kevin N Albers, Gregory W Saver, Jeffrey L Campbell, Bruce C V Molyneaux, Bradley J Hinson, H E Cordonnier, Charlotte Steiner, Thorsten Toyoda, Kazunori Wintermark, Max Littauer, Ross Collins, Jessica Lucas, Nisha Nogueira, Raul G Simard, J Marc Wald, Michael Dawson, Kate Kimberly, W Taylor CHARM Trial investigators Vandermeeren, Yves[UCL] (2024) The Lancet. Neurology — Vol. 23, no.12, p. 1205-1213 (2024)
15. • Journal article

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    Left temporoparietal junction is necessary for representing someone else's belief.

    Samson, Dana[UCL] Apperly, Ian A. Chiavarino, Claudia Humphreys, Glyn W (2004) Nature Neuroscience — Vol. 7, no.5, p. 499-500 (2004)
16. • Journal article

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    Why do picture naming latencies increase with age: general slowing, greater sensitivity to interference, or task-specific deficits?

    Feyereisen, Pierre[UCL] Demaeght, N Samson, Dana[UCL] (1998) Experimental aging research — Vol. 24, no. 1, p. 21-51 (1998)
17. • Journal article

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    Number processing and calculation in a case of visual agnosia.

    Pesenti, Mauro[UCL] Thioux, Marc[UCL] Samson, Dana[UCL] Bruyer, Raymond[UCL] Seron, Xavier[UCL] (2000) Cortex; a journal devoted to the study of the nervous system and behavior — Vol. 36, no. 3, p. 377-400 (2000)
18. • Journal article

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    Cognitive correlates of the spontaneous out-of-body experience (OBE) in the psychologically normal population : evidence for an increased role of temporal-lobe instability, body-distortion processing, and impairments in own-body transformations

    Braithwaite, Jason J. Samson, Dana[UCL] Apperly, Ian Broglia, Emma Hulleman, Johan (2011) Cortex — Vol. 47, no. 7, p. 839-853 (2011)
19. • Journal article

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    Why are there limits on theory of mind use? Evidence from adults' ability to follow instructions from an ignorant speaker

    Apperly, Ian A. Carroll, Daniel J. Samson, Dana[UCL] Humphreys, Glyn W. Qureshi, Adam Moffitt, Graham (2010) The Quarterly Journal of Experimental Psychology — Vol. 63, no. 6, p. 1201-17 (2010)
20. • Journal article

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    Executive function is necessary for perspective selection, not Level-1 visual perspective calculation : evidence from a dual-task study of adults

    Qureshi, Adam W. Apperly, Ian A. Samson, Dana[UCL] (2010) Cognition — Vol. 117, no. 2, p. 230-236 (2010)
21. • Journal article

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    Seeing it their way : evidence for rapid and involuntary computation of what other people see

    Samson, Dana[UCL] Apperly, Ian A. Braithwaite, Jason J. Andrews, Benjamin J. Scott, Sarah E. Bodley (2010) Journal of Experimental Psychology: Human Perception and Performance — Vol. 36, no. 5, p. 1255-66 (2010)
22. • Journal article

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    Separating forms of neglect using the Apples Test : validation and functional prediction in chronic and acute stroke

    Bickerton, Wai Ling Samson, Dana[UCL] Williamson, Jonathan Humphreys, Glyn W. (2011) Neuropsychology — Vol. 25, no. 5, p. 567-580 (2011)
23. • Journal article

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    Aging and the locus of the global precedence effect: a short review and new empirical data.

    Bruyer, Raymond[UCL] Scailquin, Jean-Christophe Samson, Dana[UCL] (2003) Experimental aging research — Vol. 29, no. 3, p. 237-68 (2003)
24. • Journal article

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    Systematic assessment of apraxia and functional predictions from the Birmingham Cognitive Screen

    Bickerton, Wai-Ling Riddoch, M Jane Samson, Dana[UCL] Balani, Alex Bahrami Mistry, Bejal Humphreys, Glyn W (2012) Journal of neurology, neurosurgery, and psychiatry — Vol. 83, no. 5, p. 513-21 (2012)
25. • Journal article

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    Unconjugated Hyperbilirubinemia in Acetaminophen-Related Acute Liver Failure.

    Philippart, Marie[UCL] Mesland, Jean-Baptiste[UCL] Haufroid, Vincent[UCL] Collienne, Christine[UCL] Hantson, Philippe[UCL] (2024) The American journal of case reports — Vol. 25, p. e942703 [1-4] (2024)

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