Conny M.A. van Ravenswaaij‐Arts
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View article: Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development Open
The Integrator complex plays essential roles in RNA polymerase II (RNAPII) transcription termination and RNA processing. Here, we identify INTS6, a subunit of the Integrator complex, as a novel gene associated with neurodevelopmental disor…
View article: Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views Open
The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, …
View article: Developing Del2Phen: a novel phenotype description tool for chromosome deletions
Developing Del2Phen: a novel phenotype description tool for chromosome deletions Open
Information on the health-related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations inv…
View article: Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes Open
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-rel…
View article: Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 Open
This paper focuses on genetic counselling in Phelan-McDermid syndrome (PMS), a rare neurodevelopmental disorder caused by a deletion 22q13.3 or a pathogenic variant in SHANK3. It is one of a series of papers written by the European PMS con…
View article: Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey Open
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder characterised by hypotonia, speech problems, intellectual disability and mental health issues like regression, autism and mood disorders. In the development, implementati…
View article: Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability Open
Background Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature and existing database…
View article: The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1 Open
Background Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedi…
View article: The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for<i>DLL1</i>
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for<i>DLL1</i> Open
Background Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedi…
View article: The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review Open
Background Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affecte…
View article: Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability Open
Background Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature and existing database…
View article: Mouse and cellular models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes
Mouse and cellular models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes Open
KPTN -related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN ( kaptin ), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mo…
View article: Understanding Behavior in Phelan-McDermid Syndrome
Understanding Behavior in Phelan-McDermid Syndrome Open
Background Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare genetic disorder characterized by developmental delay, hypotonia and severely delayed speech. Behavioral difficulties are often reported in PMS, although know…
View article: Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis Open
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pa…
View article: Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries Open
Diabetes mellitus (DM) in children is most often caused by impaired insulin secretion (type 1 DM). In some children, the underlying mechanism for DM is increased insulin resistance, which can have different underlying causes. While the maj…
View article: CHARGE syndrome and related disorders: a mechanistic link
CHARGE syndrome and related disorders: a mechanistic link Open
CHARGE syndrome is an autosomal dominant malformation disorder caused by pathogenic variants in the chromatin remodeler CHD7. Affected are craniofacial structures, cranial nerves and multiple organ systems. Depending on the combination of …
View article: <scp>EPHA7</scp> haploinsufficiency is associated with a neurodevelopmental disorder
<span>EPHA7</span> haploinsufficiency is associated with a neurodevelopmental disorder Open
Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph…