Explanipedia

Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa Open

Zheng-An Lu, Alexander Ploner, Andreas Birgegård, Nancy L. Pedersen, Shuyang Yao , et al. · 2025

Anorexia nervosa (AN) has extensive genetic correlations with other psychiatric disorders, and genetic risk for different psychiatric disorders was associated with distinct clinical courses in AN. Uncovering associations between transdiagn…

Enzyme Activity-Based Genome-wide Screening for Modifiers of Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors for Parkinson’s Disease Open

Vinod Udayar, Pierre‐André Gilormini, Julien Bryois, Alexandra Gehrlein, Xi Chen , et al. · 2025

Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the strongest common genetic risk factor for Parkinson's Disease (PD). However, these mutations are incompletely penetrant, which suggests …

Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes Open

Alexander Haglund, Verena Zuber, Maya Abouzeid, Yifei Yang, Jeong Hun Ko , et al. · 2025

Gene expression quantitative trait loci are widely used to infer relationships between genes and central nervous system (CNS) phenotypes; however, the effect of brain disease on these inferences is unclear. Using 2,348,438 single-nuclei pr…

Unique transcriptional profiles of adult human immature neurons in healthy aging, Alzheimer’s disease, and cognitive resilience Open

Giorgia Tosoni, Dilara Ayyildiz, Amber Penning, Sarah Snoeck, Estibaliz Santiago-Mujika , et al. · 2025

The existence and functional significance of immature neurons in the adult human brain, particularly in the context of neurodegenerative disorders, remain controversial. While rodent studies have highlighted active roles for adult-born imm…

snRNA-seq stratifies multiple sclerosis patients into distinct white matter glial responses Open

Will Macnair, Daniela Calini, Eneritz Agirre, Julien Bryois, Sarah Jäkel , et al. · 2024

Poor understanding of the cellular and molecular basis of clinical and genetic heterogeneity in progressive multiple sclerosis (MS) has hindered the search for new effective therapies. To address this gap, we analyzed 632,000 single-nucleu…

Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis Open

Zheng-An Lu, Alexander Ploner, Andreas Birgegård, Roger A.H. Adan, Lars Alfredsson , et al. · 2024

Background and Hypothesis Schizophrenia (SCZ) and anorexia nervosa (AN) are 2 severe and highly heterogeneous disorders showing substantial familial co-aggregation. Genetic factors play a significant role in both disorders, but the shared …

Single-nucleus and spatial transcriptomic profiling of human temporal cortex and white matter reveals novel associations with AD pathology Open

Pallavi Gaur, Julien Bryois, Daniela Calini, Lynette C. Foo, Jeroen J.M. Hoozemans , et al. · 2024

Alzheimer’s disease (AD) is a neurodegenerative disorder with complex pathological manifestations and is the leading cause of cognitive decline and dementia in elderly individuals. A major goal in AD research is to identify new therapeutic…

Machine learning methods for predicting guide RNA effects in CRISPR epigenome editing experiments Open

Wancen Mu, Tianyou Luo, Alejandro Barrera, Lexi R. Bounds, Tyler S. Klann , et al. · 2024

CRISPR epigenomic editing technologies enable functional interrogation of non-coding elements. However, current computational methods for guide RNA (gRNA) design do not effectively predict the power potential, molecular and cellular impact…

Cellular and molecular mapping of human adult hippocampal neurogenesis in Alzheimer’s disease Open

Giorgia Tosoni, Amber Penning, Dilara Ayyildiz, Sarah Snoeck, Suresh Poovathingal , et al. · 2023

Background Alzheimer’s disease (AD) is a progressive, irreversible disorder accounting for 50‐70% of all dementia cases. Given the current lack of disease‐modifying therapies, systematic profiling of the cell type‐ and cell state‐specific …

A structured evaluation of cryopreservation in generating single-cell transcriptomes from cerebrospinal fluid Open

Hanane Touil, Tina Roostaei, Daniela Calini, Claudiu Diaconu, Samantha Epstein , et al. · 2023

Single-cell transcriptomics allows characterization of cerebrospinal fluid (CSF) cells at an unprecedented level. Here, we report a robust cryopreservation protocol adapted for the characterization of fragile CSF cells by single-cell RNA s…

Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability Open

Xiaotong Wang, Alicia Walker, Joana Revez, Guiyan Ni, Mark J. Adams , et al. · 2023

Mapping human adult hippocampal neurogenesis with single-cell transcriptomics: Reconciling controversy or fueling the debate? Open

Giorgia Tosoni, Dilara Ayyildiz, Julien Bryois, Will Macnair, Carlos P. Fitzsimons , et al. · 2023

Single-cell Mendelian randomisation identifies cell-type specific genetic effects on human brain disease and behaviour Open

Alexander Haglund, Verena Zuber, Yifei Yang, Maya Abouzeid, Rahel Feleke , et al. · 2022

Translating genome-wide association loci to therapies requires knowledge of the causal genes, their directionality of effect and the cell-types in which they act. To infer these relationships in the human brain, we implemented Mendelian ra…

Dysregulation of Synaptic and Developmental Transcriptomic/Proteomic Profiles upon Depletion of MUNC18-1 Open

Annemiek A. van Berkel, Frank Koopmans, Miguel A. Gonzalez‐Lozano, Hanna C. A. Lammertse, Femke M. Feringa , et al. · 2022

Absence of presynaptic protein MUNC18-1 (gene: Stxbp1 ) leads to neuronal cell death at an immature stage before synapse formation. Here, we performed transcriptomic and proteomic profiling of immature Stxbp1 knock-out (KO) cells to discov…

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders Open

Julien Bryois, Daniela Calini, Will Macnair, Lynette C. Foo, Eduard Urich , et al. · 2022

Single nuclei RNAseq stratifies multiple sclerosis patients into distinct white matter glial responses Open

Will Macnair, Daniela Calini, Eneritz Agirre, Julien Bryois, Sarah Jäkel , et al. · 2022

The lack of understanding of the cellular and molecular basis of clinical and genetic heterogeneity in progressive multiple sclerosis (MS) has hindered the search for new effective therapies. Here, to address this gap, we analysed 632,000 …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia Open

Vassily Trubetskoy, Antonio F. Pardiñas, Ting Qi, Georgia Panagiotaropoulou, Swapnil Awasthi , et al. · 2022

Author Correction: Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia Open

Matthew Halvorsen, Ruth Huh, Nikolay Oskolkov, Jia Wen, Sergiu Netotea , et al. · 2022

Dysregulation of Synaptic and Developmental Transcriptomic/Proteomic Profiles upon Depletion of MUNC18-1 Open

Van Berkel A.A, Frank Koopmans, Gonzalez-Lozano M.A, Lammertse H.C.A, Femke M. Feringa , et al. · 2022

Absence of presynaptic protein MUNC18-1 (gene: Stxbp1) leads to neuronal cell death at an immature stage before synapse formation. Here, we performed transcriptomic and proteomic profiling of immature Stxbp1 knock-out (KO) cells to discove…

Enrichment of Glial Cells From Human Post-mortem Tissue for Transcriptome and Proteome Analysis Using Immunopanning Open

Anna Nölle, Irene van Dijken, Ciril M. Waelti, Daniela Calini, Julien Bryois , et al. · 2021

Graphical Abstract Schematic overview of the protocol for human glial-cell enrichment.

Defining the architecture of cerebrospinal fluid cellular communities in neuroinflammatory diseases Open

Tina Roostaei, Claudiu Diaconu, Hanane Touil, Claire Harbison, Ya Zhang , et al. · 2021

Cerebrospinal fluid (CSF) biomarkers are important for multiple sclerosis (MS) diagnosis. Moreover, absent of autopsy or biopsy tissue, CSF is the most relevant source for studying the immune cells involved in MS pathophysiology. Single-ce…

Cell-type specific cis-eQTLs in eight brain cell-types identifies novel risk genes for human brain disorders Open

Julien Bryois, Daniela Calini, Will Macnair, Lynette C. Foo, Eduard Urich , et al. · 2021

Most expression quantitative trait loci (eQTL) studies to date have been performed in heterogeneous brain tissues as opposed to specific cell types. To investigate the genetics of gene expression in adult human cell types from the central …

Summary statistics of cell-type specific cis-eQTLs in eight brain cell-types Open

Julien Bryois · 2021

This dataset contains eQTL summary statistics for all SNPs-gene pairs in 8 major brain cell types (within 1MB window surrounding the TSS of each expressed gene). For each cell type, there is one file per chromosome.\n\n\nColumn d…

Summary statistics of cell-type specific cis-eQTLs in eight brain cell-types Open

Julien Bryois · 2021

This dataset contains eQTL summary statistics for all SNPs-gene pairs in 8 major brain cell types (within 1MB window surrounding the TSS of each expressed gene). For each cell type, there is one file per chromosome. Column description: 1. …

Summary statistics of cell-type specific cis-eQTLs in eight brain cell-types Open

Julien Bryois · 2021

This dataset contains eQTL summary statistics for all SNPs-gene pairs in 8 major brain cell types (within 1MB window surrounding the TSS of each expressed gene). For each cell type, there is one file per chromosome. Column description: 1. …

Summary statistics of cell-type specific cis-eQTLs in eight brain cell-types Open

Julien Bryois · 2021

This dataset contains eQTL summary statistics for all SNPs-gene pairs in 8 major brain cell types (within 1MB window surrounding the TSS of each expressed gene). For each cell type, there is one file per chromosome. Column description: 1. …

The Genetic Architecture of Depression in Individuals of East Asian Ancestry Open

Olga Giannakopoulou, Kuang Lin, Xiangrui Meng, Mei‐Hsin Su, Po‐Hsiu Kuo , et al. · 2021

These results support caution against generalizing findings about depression risk factors across populations and highlight the need to increase the ancestral and geographic diversity of samples with consistent phenotyping.

A structured evaluation of cryopreservation in generating single cell transcriptomes from cerebrospinal fluid Open

Hanane Touil, Tina Roostaei, Daniela Calini, Claudiu Diaconu, S. Epstein , et al. · 2021

Importance A robust cerebrospinal fluid (CSF) cell cryopreservation protocol using high resolution single-cell (sc) transcriptomic data would enable the deployment of this important modality in multi-center translational research studies a…

Identifying the Common Genetic Basis of Antidepressant Response Open

Oliver Pain, Karen Hodgson, Vassily Trubetskoy, Stephan Ripke, Victoria Marshe , et al. · 2021

Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders Open

Benxia Hu, Hyejung Won, Won Mah, Royce Park, Bibi Kassim , et al. · 2021

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