Author
Leiden University Medical CenterORCID 0000-0002-7030-0362Unclaimed ORCID profile · follow to get notified of new preprints
11 papers
Recent·Most cited
Arlin Keo, Oleh Dzyubachyk, Jeroen van der Grond, Jacobus Johannes van Hilten, Marcel J. T. Reinders, Ahmed Essam Mahfouz
The paper identifies gene expression patterns linked to cortical thickness changes in Parkinson's disease using MRI and transcriptomic data, revealing pathways related to cellular maintenance mechanisms.
Frontiers in Neuroscience · Oct 1, 2021Peer-reviewedBioinformatics
Cornelis Blauwendraat, Hirotaka Iwaki, Mary B. Makarious, Sara Bandrés‐Ciga, Hampton L. Leonard, Francis P. Grenn, Julie Lake, Lynne Krohn, Manuela M. X. Tan, Jonggeol Jeffrey Kim, Jesse Raphael Gibbs, Dena G. Hernandez, Jennifer A. Ruskey, Lasse Pihlstrøm, Mathias Toft, , Andrew Singleton
This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.
Annals of Neurology · Apr 26, 2021Peer-reviewedGenetic & Genomic Medicine
Zhongbo Chen, David Zhang, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Sonia García-Ruiz, Karishma D’Sa, Aine Fairbrother-Browne, Jana Vandrovcová, Alastair John Noyce, Rauan B. Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela M. X. Tan, Huw R. Morris, Hélène Plun‐Favreau, , Rubén Fernández‐Santiago
The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.
Nature Communications · Apr 6, 2021Peer-reviewedNeuroscience
Arlin Keo, Ahmed Essam Mahfouz, Angela M. T. Ingrassia, Jean‐Pascal Meneboo, Céline Villenet, Eugénie Mutez, Thomas Comptdaer, Boudewijn P. F. Lelieveldt, Martin Figeac, Marie‐Christine Chartier‐Harlin, Wilma D. J. van de Berg, Jacobus Johannes van Hilten, Marcel J. T. Reinders
The paper identifies transcriptomic signatures of brain regional vulnerability to Parkinson’s disease by analyzing gene expression patterns across Braak Lewy body stages in human brain datasets.
Communications Biology · Mar 5, 2020Peer-reviewedNeuroscience
Sebastian Guelfi, Karishma D’Sa, Juan Antonio Botía, Jana Vandrovcová, Regina Hertfelder Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado‐Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, Alastair John Noyce, Aude Nicolas, Mark Cookson, , Elisabet Mondragón Rezola
The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.
Nature Communications · Feb 25, 2020Peer-reviewedBioinformatics
Arlin Keo, Oleh Dzyubachyk, Jeroen van der Grond, Anne Hafkemeijer, Wilma D. J. van de Berg, Jacobus Johannes van Hilten, Marcel J. T. Reinders, Ahmed Essam Mahfouz
The paper identifies gene expression changes in brain regions with gray matter loss in Parkinson's disease and links them to cholinergic circuits and signaling pathways.
bioRxiv · Dec 17, 2019 · PreprintBioinformatics
Cornelis Blauwendraat, Xylena Reed, Lynne Krohn, Karl Heilbron, Sara Bandrés‐Ciga, Manuela M. X. Tan, Jesse Raphael Gibbs, Dena G. Hernandez, Ravindran Kumaran, Rebekah G. Langston, Luis Bonet‐Ponce, Roy N. Alcalay, Sharon Hassin‐Baer, Lior Greenbaum, Hirotaka Iwaki, , Andrew Singleton
The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.
Brain · Oct 23, 2019Peer-reviewedGenetics
Chiara Milanese, César Payán‐Gómez, Marta Galvani, Nicolás Molano González, Maria Tresini, Soraya Nait Abdellah, Willeke van Roon‐Mom, Silvia Figini, Johan Marinus, Jacobus Johannes van Hilten, Pier G. Mastroberardino
The paper correlates peripheral mitochondrial function with clinical severity in idiopathic Parkinson’s disease, finding stronger correlations with non-dopaminergic signs and reversible mitochondrial defects under metabolic stress.
Movement Disorders · May 28, 2019Peer-reviewedNeuroscience
Regina Hertfelder Reynolds, Juan Antonio Botía, Mike A. Nalls, Alastair John Noyce, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, Jesse Raphael Gibbs, Dena G. Hernandez, Andrew Singleton, Xylena Reed, Hampton L. Leonard, Cornelis Blauwendraat, Faraz Faghri, José Brás, , Oriol Dols‐Icardo
This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.
npj Parkinson s Disease · Apr 17, 2019Peer-reviewedGenomics
Cornelis Blauwendraat, Karl Heilbron, Costanza Ludovica Vallerga, Sara Bandrés‐Ciga, Rainer von Coelln, Lasse Pihlstrøm, Javier Simón‐Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Ari Siitonen, Hirotaka Iwaki, Hampton L. Leonard, Alastair John Noyce, Manuela M. X. Tan, , Andrew Singleton
This study conducts a GWAS to identify genetic determinants of Parkinson's disease age of onset, finding associations with SNCA, TMEM175, and GBA, and highlighting alpha-synuclein's role in disease onset.
Movement Disorders · Apr 7, 2019Peer-reviewedGenetics
Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Jonggeol Jeffrey Kim, Ganqiang Liu, Jodi Maple‐Grødem, Jean‐Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Samantha J. Hutten, H. Nguyen Khanh-Dung, Jacqueline H. Rick, Shirley W. Eberly, Faraz Faghri, Peggy Auinger, , Mike A. Nalls
This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.
bioRxiv · Mar 27, 2019 · PreprintGenetics