van Binsbergen

PHD Candidate - Other

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Recent publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J Prijoles, Roger E Stevenson, David B Everman, Wesley G Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J Benke, María Soledad Lopez Garcia, Renee Perrier, Sergio B Sousa, Pedro M Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J Smits, Livia Garavelli, Stefano G Caraffi, Francesca Peluso, Daniëlle G M Bosch,
American Journal of Human Genetics, 2023, vol. 110, p.963-978

POU3F3-related disorder Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F Lauridsen, Oliver Murch, Rachel Irving, Sally A Lynch, Sarju G Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M Johannesen, Ian T Westphall, Susan S Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S Møller, Guido Rubboli, Allan Bayat
Clinical Genetics, 2023, vol. 104, p.186-197

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J Cullen, Shinji Saitoh, Kohji Kato
Journal of Medical Genetics, 2022, vol. 60, p.359-367

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C Caylor, Andrea Ciolfi, Ton A J van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A Levy, M E Suzanne Lewis, Angie Lichty, Marcel M A M Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A Walsh, Keren Yosovich, Christopher J Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, vol. 25, p.49-62

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder Marielle B. Plug, Vivian van Wijngaarden, Hester de Wilde, Ellen van Binsbergen, Inge Stegeman, Marie José H. van den Boogaard, Adriana L. Smit
Frontiers in Pediatrics, 2021, vol. 9, p.1-10

CSNK2B Michelle E Ernst, Evan H Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S Mulhern, Sulagna Kushary, Cigdem I Akman, Erin L Heinzen, Raymond Yeh, Weimin Bi, Neil A Hanchard, Lindsay C Burrage, Magalie S Leduc, Josephine S C Chong, Renee Bend, Michael J Lyons, Jennifer A Lee, Pim Suwannarat, Eva Brilstra, Marleen Simon, Marije Koopmans, Ellen van Binsbergen, Daniel Groepper, Julie Fleischer, Caroline Nava, Boris Keren, Cyril Mignot, Sophie Mathieu, Grazia M S Mancini, Suneeta Madan-Khetarpal, Elena M Infante, Judith Bluvstein, Andrea Seeley, Kristine Bachman, Eric W Klee, Laura E Schultz-Rogers, Linda Hasadsri, Sarah Barnett, Marissa S Ellingson, Matthew J Ferber, Vinodh Narayanan, Keri Ramsey, Anita Rauch, Pascal Joset, Katharina Steindl, Theodore Sheehan, Annapurna Poduri, Alejandra Vasquez, Claudia Ruivenkamp, Susan M White, Lynn Pais, Kristin G Monaghan, David B Goldstein, Tristan T Sands, Vimla Aggarwal
Epilepsia, 2021, vol. 62, p.e103-e109

Fellowships & Awards

2006: Ovarian ageing in Caenorhabditis elegans as a model for maternal age-related aneuploidy in human embryos

2005: Ovarian ageing in Ceanorhabditis elegans as a model for maternal age-related chromsome loss in human embryos