Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon
Published 2012-01-01

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

by Vincent Runtuwene, Mark van Eekelen, John Overvoorde, Holger Rehmann, Helger G. Yntema, Willy M. Nillesen, Arie van Haeringen, Ineke van der Burgt, Boudewijn Burgering, Jeroen den Hertog
Published 2011-05-01

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

by Farmaditya EP Mundhofir, Rahajeng N Tunjungputri, Willy M Nillesen, Bregje WM van Bon, Martina Ruiterkamp-Versteeg, Tri I Winarni, Ben CJ Hamel, Helger G Yntema, Sultana MH Faradz
Published 2013-04-01

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman...

by Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar
Published 2020-11-01

Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

by Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Published 2021-06-01

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

by Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
Published 2019-10-01