Schizophrenia: Complement Cleaning or Killing

by Jirrine T.T. Hogenaar, Hans van Bokhoven
Published 2021-02-01

Disruption of the epigenetic code: An emerging mechanism in mental retardation

by Hans van Bokhoven, Jamie M. Kramer
Published 2010-07-01

Inhibitory control of the excitatory/inhibitory balance in psychiatric disorders [version 1; referees: 2 approved]

by Martijn Selten, Hans van Bokhoven, Nael Nadif Kasri
Published 2018-01-01

Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures

by Loredana Poeta, Agnese Padula, Maria Brigida Lioi, Hans van Bokhoven, Maria Giuseppina Miano
Published 2021-07-01

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

by Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer
Published 2019-10-01

Intrinsic Myogenic Potential of Skeletal Muscle-Derived Pericytes from Patients with Myotonic Dystrophy Type 1

by Cornelia Rosanne Maria Ausems, Renée Henrica Lamberta Raaijmakers, Walterus Johannes Antonius Adriana van den Broek, Marieke Willemse, Baziel Gerardus Maria van Engelen, Derick Gert Wansink, Hans van Bokhoven
Published 2019-12-01

MicroRNA-137 Controls AMPA-Receptor-Mediated Transmission and mGluR-Dependent LTD

by Nikkie F.M. Olde Loohuis, Wei Ba, Peter H. Stoerchel, Aron Kos, Amanda Jager, Gerhard Schratt, Gerard J.M. Martens, Hans van Bokhoven, Nael Nadif Kasri, Armaz Aschrafi
Published 2015-06-01

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

by Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Published 2018-01-01

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

by Zehra Agha, Zafar Iqbal, Maleeha Azam, Humaira Ayub, Lisenka E L M Vissers, Christian Gilissen, Syeda Hafiza Benish Ali, Moeen Riaz, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Raheel Qamar
Published 2014-01-01

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

by Monica Frega, Martijn Selten, Britt Mossink, Jason M. Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif Kasri
Published 2020-01-01

Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape

by Jieqiong Qu, Sabine E.J. Tanis, Jos P.H. Smits, Evelyn N. Kouwenhoven, Martin Oti, Ellen H. van den Bogaard, Colin Logie, Hendrik G. Stunnenberg, Hans van Bokhoven, Klaas W. Mulder, Huiqing Zhou
Published 2018-12-01

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.

by Jamie M Kramer, Korinna Kochinke, Merel A W Oortveld, Hendrik Marks, Daniela Kramer, Eiko K de Jong, Zoltan Asztalos, J Timothy Westwood, Hendrik G Stunnenberg, Marla B Sokolowski, Krystyna Keleman, Huiqing Zhou, Hans van Bokhoven, Annette Schenck
Published 2011-01-01

Human intellectual disability genes form conserved functional modules in Drosophila.

by Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, Bonnie Nijhof, Ana Clara Fernandes, Korinna Kochinke, Anna Castells-Nobau, Eva van Engelen, Thijs Ellenkamp, Lilian Eshuis, Anne Galy, Hans van Bokhoven, Bianca Habermann, Han G Brunner, Christiane Zweier, Patrik Verstreken, Martijn A Huynen, Annette Schenck
Published 2013-10-01

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

by Monica Frega, Katrin Linda, Jason M. Keller, Güvem Gümüş-Akay, Britt Mossink, Jon-Ruben van Rhijn, Moritz Negwer, Teun Klein Gunnewiek, Katharina Foreman, Nine Kompier, Chantal Schoenmaker, Willem van den Akker, Ilse van der Werf, Astrid Oudakker, Huiqing Zhou, Tjitske Kleefstra, Dirk Schubert, Hans van Bokhoven, Nael Nadif Kasri
Published 2019-10-01

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycan...

by Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven
Published 2017-12-01

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

by Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Sonja de Munnik, Marjolein H Willemsen, Michaela Fenckova, Connie T R M Stumpel, Levinus A Bok, Margarita Sifuentes Saenz, Kyna A Byerly, Linda B Baughn, Alexander P A Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M Kramer
Published 2017-10-01

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

by Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers
Published 2011-12-01

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

by Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli
Published 2011-09-01

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

by Evelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, Martin Oti, Bas E Dutilh, M Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A Huynen, Alexander Hoischen, Joris A Veltman, Han G Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou
Published 2010-08-01

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

by Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick
Published 2018-12-01