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Michaela Fenckova
Radboud University Nijmegen
18Publications
10H-index
566Citations
Publications 18
Newest
#1Benjamin Harich (Radboud University Nijmegen)H-Index: 4
#2Monique van der Voet (Radboud University Nijmegen)H-Index: 12
Last.Barbara Franke (Radboud University Nijmegen)H-Index: 76
view all 7 authors...
Aim: Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable psychiatric disorder. The objective of this study was to define ADHD-associated candidate genes, and their associated molecular modules and biological themes, based on the analysis of rare genetic variants. Methods: We combined data from 11 published copy number variation (CNV) studies in 6176 individuals with ADHD and 25026 controls and prioritized genes by applying an integrative strategy based on criteria including rec...
Source
#1Michaela Fenckova (Radboud University Nijmegen)H-Index: 10
#2Laura E.R. Blok (Radboud University Nijmegen)H-Index: 1
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 14 authors...
Abstract Background Although habituation is one of the most ancient and fundamental forms of learning, its regulators and its relevance for human disease are poorly understood. Methods We manipulated the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid autism spectrum disorder (ASD) specifically in Drosophila neurons, and we tested these models in light-off jump habituation. We dissected neuronal substrates underlying the identified habituation deficits ...
1 CitationsSource
#1Michaela Fenckova (Radboud University Nijmegen)H-Index: 10
#2Laura E.R. Blok (Radboud University Nijmegen)H-Index: 1
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 14 authors...
Abstract Background Although habituation is one of the most ancient and fundamental forms of learning, its regulators and relevance for human disease are poorly understood. Methods We manipulated the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid autism spectrum disorder (ASD) specifically in Drosophila neurons, and tested these models in light-off jump habituation. We dissected neuronal substrates underlying the identified habituation deficits and int...
1 CitationsSource
#1Anna Castells-Nobau (Radboud University Nijmegen)H-Index: 8
#2Ilse Eidhof (Radboud University Nijmegen)H-Index: 3
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 17 authors...
FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Here we show that the dimerization pro...
2 CitationsSource
#1Michaela Fenckova (Radboud University Nijmegen)H-Index: 10
#2Lenke AsztalosH-Index: 2
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 12 authors...
Background: Although habituation is one of the most ancient and fundamental forms of learning, its regulators and relevance for human disease are poorly understood. Methods: We manipulated the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid autism spectrum disorder (ASD) specifically in Drosophila neurons, and tested these models in light-off jump habituation. We dissected neuronal substrates underlying the identified habituation deficits and integrated...
2 CitationsSource
#1Michaela Fenckova (Radboud University Nijmegen)H-Index: 10
#2Lenke AsztalosH-Index: 2
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 12 authors...
Background: Although habituation is one of the most ancient and fundamental forms of learning, its regulators and relevance for human disease are poorly understood. Methods: We manipulated the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid autism spectrum disorder (ASD) specifically in Drosophila neurons, and tested these models in light-off jump habituation. We dissected neuronal substrates underlying the identified habituation deficits and integrated...
1 CitationsSource
#1Ilse Eidhof (Radboud University Nijmegen)H-Index: 3
#2Michaela Fenckova (Radboud University Nijmegen)H-Index: 10
Last.Annette Schenck (Radboud University Nijmegen)H-Index: 31
view all 6 authors...
Advances in next-generation sequencing technologies contribute to the identification of (candidate) disease genes for movement disorders and other neurological diseases at an increasing speed. However, little is known about the molecular mechanisms that underlie these disorders. The genetic, molecular, and behavioral toolbox of Drosophila melanogaster makes this model organism particularly useful to characterize new disease genes and mechanisms in a high-throughput manner. Nevertheless, high-thr...
3 CitationsSource
#1Tom S. KoemansH-Index: 5
#2Tjitske KleefstraH-Index: 47
Last.Jamie M. Kramer (UWO: University of Western Ontario)H-Index: 17
view all 19 authors...
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of f...
25 CitationsSource
#1Holly A. F. Stessman (Creighton University)H-Index: 19
#2Bo Xiong (Creighton University)H-Index: 17
Last.Evan E. Eichler (UW: University of Washington)H-Index: 141
view all 53 authors...
Evan Eichler and colleagues use single-molecule molecular-inversion probes to sequence the coding and splicing regions of 208 candidate genes in more than 11,730 individuals with neurodevelopmental disorders. They report 91 genes with an excess of de novo or private disruptive mutations, identify 25 genes showing a bias for autism versus intellectual disability, and highlight a network associated with high-functioning autism.
135 CitationsSource
#1Dorien Lugtenberg (Radboud University Nijmegen)H-Index: 21
#2Margot R.F. Reijnders (Radboud University Nijmegen)H-Index: 11
Last.Lisenka E.L.M. Vissers (Radboud University Nijmegen)H-Index: 42
view all 30 authors...
Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals ...
14 CitationsSource
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