Nathalie Van der Aa onbezoldigd medewerker

Publicaties Nathalie Van der Aa

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

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Molecular genetics & genomic medicine - ISSN 2324-9269-9:9 (2021) p.
Auteur(s)
    Sarah Duerinckx, Julie Desir, Camille Perazzolo, Cindy Badoer, Valerie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, Francois-Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stephanie Moortgat, Geert Mortier, Marie-Cecile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenneke van den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

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Nature communications - ISSN 2041-1723-11:1 (2020) p.
Auteur(s)
    Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Frank Kooy, Hilde Peeters, Evan E. Eichler

Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging

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The American journal of human genetics - ISSN 0002-9297-105:3 (2019) p. 493-508
Auteur(s)
    Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, Cristina Andreoli, Francesca Clementina Radio, Simone Pizzi, Giovanna Carpentieri, Alessandro Bruselles, Giuseppina Catanzaro, Lucia Pedace, Evelina Miele, Elena Carcarino, Xiaoyan Ge, Chieko Chijiwa, Me Suzanne Lewis, Marije Meuwissen, Sandra Kenis, Nathalie Van der Aa, Austin Larson, Kathleen Brown, Melissa P. Wasserstein, Brian G. Skotko, Amber Begtrup, Richard Person, Maria Karayiorgou, J. Louw Roos, Koen L. Van Gassen, Marije Koopmans, Emilia K. Bijlsma, Gijs W. E. Santen, Daniela Q. C. M. Barge-Schaapveld, Claudia A. L. Ruivenkamp, Mariette J., V Hoffer, Seema R. Lalani, Haley Streff, William J. Craigen, Brett H. Graham, Annette P. M. van den Elzen, Daan J. Kamphuis, Katrin Ounap, Karit Reinson, Sander Pajusalu, Monica H. Wojcik, Clara Viberti, Frank Kooy, Marco Tartaglia

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

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Biological psychiatry - ISSN 0006-3223-85:4 (2019) p. 287-297
Auteur(s)
    Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse van der Werf, Grazia M. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransen, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabiola Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurelia Jacquette, Laurence Faivre, Stephane Bezieau, Bertrand Isidor, Angelika Riess, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Leah Slattery