H. van Bokhoven
Radboud University Nijmegen
GeneMolecular biologyMutationGeneticsBiology
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Publications 315
#1Monica FregaH-Index: 5
#2Martijn M. SeltenH-Index: 7
Last. Nael Nadif KasriH-Index: 28
view all 15 authors...
Summary Pathogenic mutations in either one of the epigenetic modifiers EHMT1, MBD5, MLL3, or SMARCB1 have been identified to be causative for Kleefstra syndrome spectrum (KSS), a neurodevelopmental disorder with clinical features of both intellectual disability (ID) and autism spectrum disorder (ASD). To understand how these variants lead to the phenotypic convergence in KSS, we employ a loss-of-function approach to assess neuronal network development at the molecular, single-cell, and network a...
#1Loredana Poeta (National Research Council)H-Index: 3
#2Agnese Padula (National Research Council)
Last. Maria Giuseppina Miano (National Research Council)H-Index: 15
view all 18 authors...
#1Cornelia Rosanne Maria Ausems (Radboud University Nijmegen)
#2Renée H.L. Raaijmakers (Radboud University Nijmegen)H-Index: 1
Last. H. van Bokhoven (Radboud University Nijmegen)H-Index: 67
view all 7 authors...
Pericytes are multipotent, vessel-associated progenitors that exhibit high proliferative capacity, can cross the blood-muscle barrier, and have the ability to home to muscle tissue and contribute to myogenesis. Consequently, pericyte-based therapies hold great promise for muscular dystrophies. A complex multi-system disorder exhibiting muscular dystrophy for which pericytes might be a valuable cell source is myotonic dystrophy type 1 (DM1). DM1 is caused by an unstable (CTG)n repeat in the DMPK ...
#1Caroline Dias (Boston Children's Hospital)H-Index: 2
#2Jaya Punetha (BCM: Baylor College of Medicine)H-Index: 3
Last. Reza Maroofian (UCL: University College London)H-Index: 8
view all 43 authors...
NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental del...
#1Monica Frega (UT: University of Twente)H-Index: 5
#1Monica Frega (UT: University of Twente)H-Index: 1
Last. Nael Nadif KasriH-Index: 28
view all 19 authors...
Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediate...
1 CitationsSource
#2Hieab H.H. Adams (EUR: Erasmus University Rotterdam)H-Index: 19
Last. M. Arfan Ikram (EUR: Erasmus University Rotterdam)H-Index: 82
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Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysi...
5 CitationsSource
#2Hieab H.H. Adams (EUR: Erasmus University Rotterdam)H-Index: 19
Last. M. Arfan Ikram (EUR: Erasmus University Rotterdam)H-Index: 82
view all 289 authors...
1 CitationsSource
#1Elodie Richard (UMB: University of Maryland, Baltimore)H-Index: 10
#2Daniel L. Polla (Radboud University Nijmegen)H-Index: 3
Last. Saima Riazuddin (UMB: University of Maryland, Baltimore)H-Index: 40
view all 16 authors...
Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome sequencing (ES) has been instrumental in deciphering the genetic etiology of ID. Here, through ES of a large cohort of individuals with ID, we identified two bi-allelic frameshift variants in METTL5, c.344_345delGA (p.Arg115Asnfs∗19) and c.571_572delAA (p.Lys191Valfs∗10), in families of Pakistani and Yemenite ori...
1 CitationsSource
#1Timothy C. Cox (UMKC: University of Missouri–Kansas City)H-Index: 32
#2Andrew C. LidralH-Index: 38
Last. Tony RoscioliH-Index: 26
view all 30 authors...
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. In 70% of cases, CL/P presents as an isolated feature and/or deemed nonsyndromic. In the remaining 30%, CL/P is associated with multisystem phenotypes or clinically recognizable syndromes, many with a monogenic basis. Here we report the identification, via exome sequencing, of likely pathogenic variants in two genes that encode interacting proteins previousl...
#1Daniel L. Polla (Radboud University Nijmegen)H-Index: 3
#2Harriet R. Saunders (Radboud University Nijmegen)
Last. Arjan P.M. de Brouwer (Radboud University Nijmegen)H-Index: 41
view all 5 authors...