Cornelis Blauwendraat
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View article: <scp><i>RAB32</i></scp>‐Linked Parkinson's Disease: Deep Phenotyping, <scp>MDSGene</scp> Literature Review, and Application of <scp>SynNeurGe</scp> Criteria
<span><i>RAB32</i></span>‐Linked Parkinson's Disease: Deep Phenotyping, <span>MDSGene</span> Literature Review, and Application of <span>SynNeurGe</span> Criteria Open
Background The RAB32 p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce. Objectives Our aim was to clinically and biologically characterize individuals w…
View article: Decreased SNCA expression in whole-blood RNA analysis of Parkinson’s disease adjusting for neutrophils
Decreased SNCA expression in whole-blood RNA analysis of Parkinson’s disease adjusting for neutrophils Open
Blood-based RNA transcriptomics offers a promising avenue for identifying biomarkers of Parkinson's disease (PD) progression and mechanisms of pathogenesis. Previous work uncovered an age-related increase of neutrophil-enriched gene expres…
View article: Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease
Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease Open
Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants …
View article: Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer’s and other neurological disorders
Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer’s and other neurological disorders Open
Variants of uncertain significance (VUS) are a bottleneck for genetic discovery and complicate clinical decision-making in Alzheimer’s disease and related neurological disorders (ADRD). We developed MoVUS: Model for Variants of Unknown Sig…
View article: Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus Open
Although genome-wide association studies have provided valuable insights into the genetic basis of complex traits and diseases, translating these findings to causal genes and their downstream mechanisms remains challenging. We performed tr…
View article: Long-read sequencing of single cell-derived melanoma subclones reveals divergent and parallel genomic and epigenomic evolutionary trajectories
Long-read sequencing of single cell-derived melanoma subclones reveals divergent and parallel genomic and epigenomic evolutionary trajectories Open
Tumor evolution is driven by various mutational processes, ranging from single-nucleotide vari- ants (SNVs) to large structural variants (SVs) to dynamic shifts in DNA methylation. Current short-read sequencing methods struggle to accurate…
View article: Author Correction: Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential
Author Correction: Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential Open
View article: Gut-brain nexus: Mapping multimodal links to neurodegeneration at biobank scale
Gut-brain nexus: Mapping multimodal links to neurodegeneration at biobank scale Open
Alzheimer’s disease (AD) and Parkinson’s disease (PD) are influenced by genetic and environmental factors. We conducted a biobank-scale study to (i) identify endocrine, nutritional, metabolic, and digestive disorders with potential causal …
View article: Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities
Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities Open
The need for more diversity in research is a widely recognized problem, especially in the genetics and genomics fields. While resolving this problem seems straightforward by recruiting and sequencing research participants from underreprese…
View article: Long-read sequencing identifies <i>FGF14</i> repeat expansions in Parkinson’s disease
Long-read sequencing identifies <i>FGF14</i> repeat expansions in Parkinson’s disease Open
Pathogenic GAA repeat expansions in FGF14 are an established cause of late-onset cerebellar ataxia, but have not been linked to Parkinson’s disease (PD). Given emerging evidence that repeat expansions in ataxia-associated genes like RFC1 ,…
View article: Biobank-scale genetic characterization of Alzheimer’s disease and related dementias across diverse ancestries
Biobank-scale genetic characterization of Alzheimer’s disease and related dementias across diverse ancestries Open
Alzheimer’s disease and related dementias (AD/ADRDs) pose a significant global public health challenge. To effectively implement personalized therapeutic interventions on a global scale, it is essential to identify disease-causing, risk, a…
View article: A <scp>CGG</scp> Repeat Expansion in <scp><i>CSNK1E</i></scp> Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance
A <span>CGG</span> Repeat Expansion in <span><i>CSNK1E</i></span> Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance Open
Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat…
View article: The Global Landscape of Genetic Variation in Parkinson’s disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance
The Global Landscape of Genetic Variation in Parkinson’s disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance Open
Background The genetic architecture of Parkinson’s disease (PD) varies considerably across ancestries, yet most genetic studies have focused on individuals of European descent, limiting our insights into the genetic architecture of PD at a…
View article: Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson’s Disease Open
Background Dystonia and Parkinson’s disease (PD) show clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective To assess the frequency of dystonia-linked pathogenic variants in PD. Methods …
View article: Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores Open
Risk prediction models play a crucial role in advancing healthcare by enabling early detection and supporting personalized medicine. Nonetheless, polygenic risk scores (PRS) for Parkinson’s disease (PD) have not been extensively studied ac…
View article: Haplotype-Resolved DNA Methylation at the<i>APOE</i>Locus identifies Allele-Specific Epigenetic Signatures Relevant to Alzheimer’s Disease Risk
Haplotype-Resolved DNA Methylation at the<i>APOE</i>Locus identifies Allele-Specific Epigenetic Signatures Relevant to Alzheimer’s Disease Risk Open
The APOE gene encodes a key lipid transport protein and plays a central role in Alzheimer’s disease (AD) pathogenesis. Three common APOE alleles, ε2 (rs7412(C>T), ε3 (reference), and ε4 (rs429358(T>C)), arise from two coding variants in ex…
View article: Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in <i>GBA1</i> isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism
Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in <i>GBA1</i> isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism Open
Variants in GBA1 are common genetic risk factors for several synucleinopathies. The increased risk has been attributed to the toxic effects of misfolded glucocerebrosidase (GCase) (gain-of-function), and the accumulation of lipid substrate…
View article: Screening of Hidden Pathogenic Structural Variants in <scp><i>PRKN</i></scp>
Screening of Hidden Pathogenic Structural Variants in <span><i>PRKN</i></span> Open
View article: A community-led initiative to de-risk and advance Parkinson’s disease therapeutic targets
A community-led initiative to de-risk and advance Parkinson’s disease therapeutic targets Open
View article: Dissecting the biological impact of <i>GBA1</i> mutations using multi-omics in an isogenic setting
Dissecting the biological impact of <i>GBA1</i> mutations using multi-omics in an isogenic setting Open
GBA1 is a risk gene for multiple neurodegenerative diseases, including Lewy Body Dementia and Parkinson’s disease, and biallelic pathogenic variants in the gene result in the lysosomal storage disorder Gaucher disease. GBA1 encodes the enz…
View article: Identification of <scp>GGC</scp> Repeat Expansions in <scp><i>ZFHX3</i></scp> among Chilean Movement Disorder Patients
Identification of <span>GGC</span> Repeat Expansions in <span><i>ZFHX3</i></span> among Chilean Movement Disorder Patients Open
Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3 , responsible for spinocerebellar ataxia type 4 (SCA4), has only been de…
View article: The Neurodegenerative Disease Knowledge Portal
The Neurodegenerative Disease Knowledge Portal Open
[This corrects the article DOI: 10.1212/NXG.0000000000200246.].
View article: Sleep disturbances as risk factors for neurodegeneration later in life
Sleep disturbances as risk factors for neurodegeneration later in life Open
The relationship between sleep disorders and neurodegeneration is complex. Using >1 million electronic health records from Wales, UK, and Finland, we mined biobank data to identify relationships between sleep disorders and neurodegenerativ…
View article: APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers′s disease
APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers′s disease Open
Among the more than 90 identified genetic risk loci for late-onset Alzheimer′s disease (AD) and related dementias, the apolipoprotein E gene (APOE) ϵ2/ϵ3/ϵ4 polymorphism remains the longstanding benchmark for genetic disease risk with a co…
View article: Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in <i>PRKN</i>-associated Parkinson's Disease
Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in <i>PRKN</i>-associated Parkinson's Disease Open
Electroconvulsive therapy (ECT), an established treatment for psychiatric disorders, shows promise in alleviating both motor and non-motor symptoms in patients with Parkinson's disease (PD). We herein report a case of PRKN-associated PD pr…
View article: Prioritizing Parkinson’s disease risk genes in genome-wide association loci
Prioritizing Parkinson’s disease risk genes in genome-wide association loci Open
View article: The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population Open
LRRK2 -PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers wi…
View article: Identification of GGC Repeat Expansions in<i>ZFHX3</i>Among Chilean Movement Disorder Patients
Identification of GGC Repeat Expansions in<i>ZFHX3</i>Among Chilean Movement Disorder Patients Open
Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. A pathogenic ZFHX3 GGC repeat expansion was recently linked to spinocerebellar ataxia type 4 (SCA4), chara…
View article: Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
Assessing DNA methylation detection for primary human tissue using Nanopore sequencing Open
DNA methylation most commonly occurs as 5-methylcytosine (5mC) in the human genome and has been associated with human diseases. Recent developments in single-molecule sequencing technologies (Oxford Nanopore Technologies [ONT] and Pacific …
View article: Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies
Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies Open
Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of…