Bert B.A. de Vries
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View article: A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study Open
Indications for neurodegeneration, following these cytoskeletal perturbations, have been observed in cellular and murine models for the Helsmoortel-Van der Aa syndrome. However, clinical evidence remains unclear due to the young age of pat…
View article: A Message Passing Realization of Expected Free Energy Minimization
A Message Passing Realization of Expected Free Energy Minimization Open
We present a message passing approach to Expected Free Energy (EFE) minimization on factor graphs, based on the theory introduced in arXiv:2504.14898. By reformulating EFE minimization as Variational Free Energy minimization with epistemic…
View article: GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders Open
Comprehensively characterizing genotype-phenotype correlations (GPCs) in Mendelian disease would create new opportunities for improving clinical management and understanding disease biology. However, heterogeneous approaches to data sharin…
View article: Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases Open
Summary Background Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the Generative Pretraine…
View article: CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature Open
Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by…
View article: Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey
Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey Open
Jansen–de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disability and gastrointestinal (GI) abnormalities, including recurrent vomiting. This study aimed to understand the frequency and sever…
View article: Improved Depth Estimation of Bayesian Neural Networks
Improved Depth Estimation of Bayesian Neural Networks Open
This paper proposes improvements over earlier work by Nazareth and Blei (2022) for estimating the depth of Bayesian neural networks. Here, we propose a discrete truncated normal distribution over the network depth to independently learn it…
View article: Reactive Environments for Active Inference Agents with RxEnvironments.jl
Reactive Environments for Active Inference Agents with RxEnvironments.jl Open
Active Inference is a framework that emphasizes the interaction between agents and their environment. While the framework has seen significant advancements in the development of agents, the environmental models are often borrowed from rein…
View article: Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome
Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome Open
Koolen-de Vries Syndrome (KdVS) is a neurodevelopmental disorder (NDD) with no treatment options due to a lack of understanding of its underlying pathophysiology. To investigate neuronal activity in KdVS, human induced pluripotent stem cel…
View article: De novo variants predicting haploinsufficiency for <scp><i>DIP2C</i></scp> are associated with expressive speech delay
De novo variants predicting haploinsufficiency for <span><i>DIP2C</i></span> are associated with expressive speech delay Open
The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 reg…
View article: YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs Open
Germline mutations of YY1 cause Gabriele-de Vries syndrome (GADEVS), a neurodevelopmental disorder featuring intellectual disability and a wide range of systemic manifestations. To dissect the cellular and molecular mechanisms underlying G…
View article: P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus
P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus Open
Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome characterized by developmental delay, hypotonia, and distinct facial dysmorphia. In addition to the d…
View article: Koolen-de Vries Syndrome: a journey from diagnosis to treatments
Koolen-de Vries Syndrome: a journey from diagnosis to treatments Open
The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this …
View article: PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders
PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders Open
The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDD) is not well understood, while these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of N…