Esmée van Drie
University of Amsterdam
1 Papers
6 Citations
Esmée van Drie is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Exome & Synaptopathy. The author has co-authored 1 publications.
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Papers
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero,Melissa Maria Boerrigter,Melissa Maria Boerrigter,David Gómez-Andrés,Kimberly A. Aldinger,Iñigo Marcos-Alcalde,Iñigo Marcos-Alcalde,Bernt Popp,Bernt Popp,David B. Everman,Alysia Kern Lovgren,Stéphanie Arpin,Vahid Bahrambeigi,Gea Beunders,Anne Marie Bisgaard,V. A. Bjerregaard,Ange Line Bruel,Thomas D. Challman,Benjamin Cogné,Christine Coubes,Stella A. de Man,Anne Sophie Denommé-Pichon,Thomas J. Dye,Thomas J. Dye,Frances Elmslie,Lars Feuk,Sixto García-Miñaur,Tracy S. Gertler,Elisa Giorgio,Nicolas Gruchy,Tobias B. Haack,Chad R. Haldeman-Englert,Bjørn Ivar Haukanes,Juliane Hoyer,Anna C.E. Hurst,Bertrand Isidor,Maria Johansson Soller,Sulagna Kushary,Malin Kvarnung,Yuval Landau,Kathleen A. Leppig,Anna Lindstrand,Lotte Kleinendorst,Alex MacKenzie,Giorgia Mandrile,Bryce A. Mendelsohn,Setareh Moghadasi,Jenny Morton,Sebastien Moutton,Amelie J. Müller,Melanie O’Leary,Marta Pacio-Míguez,María Palomares-Bralo,Sumit Parikh,Rolph Pfundt,Ben Pode-Shakked,Ben Pode-Shakked,Anita Rauch,Elena Repnikova,Anya Revah-Politi,Anya Revah-Politi,Meredith J. Ross,Claudia A. L. Ruivenkamp,Elisabeth Sarrazin,Juliann M. Savatt,Agatha Schlüter,Bitten Schönewolf-Greulich,Zohra Shad,Charles Shaw-Smith,Joseph T. Shieh,Motti Shohat,Stephanie Spranger,Heidi Thiese,Frédéric Tran Mau-Them,Bregje W.M. van Bon,Ineke van de Burgt,Ingrid M.B.H. van de Laar,Esmée van Drie,Mieke M. van Haelst,Conny M. A. van Ravenswaaij-Arts,Edgard Verdura,Antonio Vitobello,Stephan Waldmüller,Sharon Whiting,Christiane Zweier,Carlos E. Prada,Carlos E. Prada,Bert B.A. de Vries,William B. Dobyns,William B. Dobyns,Simone F. Reiter,Paulino Gómez-Puertas,Aurora Pujol,Zeynep Tümer +93 more
TL;DR: In this paper, the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants were collected through GeneMatcher collaboration and all the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.
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