From GWAS to functional studies: Tackling the complex nature of brain disorders

Risultati finali

After 6 months the initial data management plan will be delivered and updated during the lifespan of the project.

Pubblicazioni

An integrated framework for local genetic correlation analysis

Autori: Josefin Werme, Sophie van der Sluis, Danielle Posthuma, Christiaan A. de Leeuw
Pubblicato in: Nature Genetics, Numero March 14, 2022, 2022, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1101/2020.12.31.424652

Statistical testing in transcriptomic-neuroimaging studies: A how-to and evaluation of methods assessing spatial and gene specificity

Autori: Yongbin Wei, Siemon C. de Lange, Rory Pijnenburg, Lianne H. Scholtens, Dirk Jan Ardesch, Kyoko Watanabe, Danielle Posthuma, Martijn P. van den Heuvel
Pubblicato in: Human Brain Mapping, Numero Feb 15 2022, 2021, Pagina/e 885-901, ISSN 1097-0193
Editore: Wiley Online Library
DOI: 10.1002/hbm.25711

Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health

Autori: Elleke Tissink; Siemon C. de Lange; Jeanne E. Savage; Douglas P. Wightman; Christiaan A. de Leeuw; Kristen M. Kelly; Mats Nagel; Martijn P. van den Heuvel; Danielle Posthuma
Pubblicato in: Communications Biology, Numero 5(710), 2022, ISSN 2399-3642
Editore: Springer Nature
DOI: 10.1038/s42003-022-03672-7

Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study

Autori: E. P. Tissink, A. A. Shadrin, D. van der Meer, N. Parker, G. Hindley, D. Roelfs, O. Frei, C. C. Fan, M. Nagel, T. Nærland, M. Budisteanu, S. Djurovic, L. T. Westlye, M. P. van den Heuvel, D. Posthuma, T. Kaufmann, A. M. Dale, O. A. Andreassen
Pubblicato in: Nature Communications, Numero 15, 2024, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-024-46817-4

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Autori: Jansen, Iris; van der Lee, Sven J; Bellenguez, Céline; Ramakers, Inez; Rodriguez-Rodriguez, Eloy; Rujescu, Dan; Saltvedt, Ingvild; Sanchez-Juan, Pascual; Scheltens, Philip; Scherbaum, Norbert; Schmid, Matthias; Schneider, Anja; Selbæk, Geir; Kleineidam, Luca; Selnes, Per; Shadrin, Alexey; Skoog, Ingmar; Soininen, Hilkka; Tárraga, Lluís; Teipel, Stefan; group, GR@ACE study; Tijms, Betty; Tsolak
Pubblicato in: Acta Neuropathologica, Numero Volume 144, 2022, Pagina/e 821-842, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-022-02454-z

The Genetic Architectures of Functional and Structural Connectivity Properties within Cerebral Resting-State Networks

Autori: Elleke Tissink; Josefin Werme; Siemon C. de Lange; Jeanne E. Savage; Yongbin Wei; Christiaan A. de Leeuw; Mats Nagel; Danielle Posthuma; Martijn P. van den Heuvel
Pubblicato in: eNeuro, Numero 10(4), 2023, ISSN 2373-2822
Editore: Society for Neuroscience
DOI: 10.1523/eneuro.0242-22.2023

Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system

Autori: Vera Fominykh, Alexey A. Shadrin, Piotr P. Jaholkowski, Shahram Bahrami, Lavinia Athanasiu, Douglas P. Wightman, Emil Uffelmann, Danielle Posthuma, Geir Selbæk, Anders M. Dale, Srdjan Djurovic, Oleksandr Frei, Ole A. Andreassen
Pubblicato in: Neurobiology of Disease, Numero 183, 2024, Pagina/e 106174, ISSN 0969-9961
Editore: Academic Press
DOI: 10.1016/j.nbd.2023.106174

Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence

Autori: Philip R. Jansen, Mats Nagel, Kyoko Watanabe, Yongbin Wei, Jeanne E. Savage, Christiaan A. de Leeuw, Martijn P. van den Heuvel, Sophie van der Sluis, Danielle Posthuma
Pubblicato in: Nature Communications, Numero 11, 2022, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-020-19378-5

Local genetic sex differences in quantitative traits

Autori: Emil Uffelmann, Christiaan de Leeuw, Marijn Schipper, Danielle Posthuma
Pubblicato in: Nature Communications, Numero 16, 2025, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-025-62504-4

Prioritizing Parkinson’s disease risk genes in genome-wide association loci

Autori: Lara M. Lange, Catalina Cerquera-Cleves, Marijn Schipper, Georgia Panagiotaropoulou, Alice Braun, Julia Kraft, Swapnil Awasthi, Nathaniel Bell, Danielle Posthuma, Stephan Ripke, Cornelis Blauwendraat, Karl Heilbron
Pubblicato in: NPJ Parkinson's Disease, 2025, ISSN 2373-8057
Editore: Springer Nature
DOI: 10.1101/2024.12.13.24318996

Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates

Autori: Emil Uffelmann, Danielle Posthuma, Wouter J. Peyrot
Pubblicato in: Scientific Reports - Nature, Numero 4219 (2023), 2023, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-023-29428-9

Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways

Autori: Kyoko Watanabe; Philip R. Jansen; Jeanne E. Savage; Priyanka Nandakumar; Xin Wang; Michelle Agee; Stella Aslibekyan; Adam Auton; Robert K. Bell; Katarzyna Bryc; Sarah K. Clark; Sarah L. Elson; Kipper Fletez-Brant; Pierre Fontanillas; Nicholas A. Furlotte; Pooja M. Gandhi; Karl Heilbron; Barry Hicks; Karen E. Huber; Ethan M. Jewett; Yunxuan Jiang; Aaron Kleinman; Keng-Han Lin; Nadia K. Litterman; J
Pubblicato in: Nature Genetics, Numero 54(8), 2022, Pagina/e 1125-1132, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-022-01124-w

Estimating disorder probability based on polygenic prediction using the BPC approach

Autori: Emil Uffelmann, null null, Cathryn M. Lewis, Andrew M. McIntosh, null null, Micheal C. O’Donovan, James T. R. Walters, Alkes L. Price, Danielle Posthuma, Wouter J. Peyrot
Pubblicato in: Nature Communications, Numero 16, 2025, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-025-62929-x

The genetic overlap between Alzheimer’s disease, amyotrophic lateral sclerosis, Lewy body dementia, and Parkinson’s disease

Autori: Douglas P. Wightman, Jeanne E. Savage, Elleke Tissink, Cato Romero, Iris E. Jansen, Danielle Posthuma
Pubblicato in: Neurobiology of Aging, Numero Volume 127, 2023, Pagina/e 99-112, ISSN 0197-4580
Editore: Elsevier BV
DOI: 10.1016/j.neurobiolaging.2023.03.004

Emerging Methods and Resources for Biological Interrogation of Neuropsychiatric Polygenic Signal

Autori: Emil Uffelmann, Danielle Posthuma
Pubblicato in: Biological Psychiatry, Numero 89/1, 2021, Pagina/e 41-53, ISSN 0006-3223
Editore: Elsevier BV
DOI: 10.1016/j.biopsych.2020.05.022

Genome-wide gene-environment interactions in neuroticism: an exploratory study across 25 environments

Autori: Josefin Werme, Sophie van der Sluis, Danielle Posthuma & Christiaan A. de Leeuw
Pubblicato in: Translational Psychiatry, Numero March 22, 2021, 2021, Pagina/e Article number: 180, ISSN 2158-3188
Editore: Nature Publishing Group
DOI: 10.1038/s41398-021-01334-6

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Autori: Douglas P. Wightman, Iris E. Jansen, Jeanne E. Savage, Alexey A. Shadrin, Shahram Bahrami, Dominic Holland, Arvid Rongve, Sigrid Børte, Bendik S. Winsvold, Ole Kristian Drange, Amy E. Martinsen, Anne Heidi Skogholt, Cristen Willer, Geir Bråthen, Ingunn Bosnes, Jonas Bille Nielsen, Lars G. Fritsche, Laurent F. Thomas, Linda M. Pedersen, Maiken E. Gabrielsen, Marianne Bakke Johnsen, Tore Wergeland
Pubblicato in: Nature Genetics, Numero September 7, 2021, 2021, Pagina/e 1276–1282, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-021-00977-x

Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

Autori: Nora I. Strom, Zachary F. Gerring, Marco Galimberti, Dongmei Yu, Matthew W. Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M. Sealock, Tim Bigdeli, Jonathan R. Coleman, Behrang Mahjani, Jackson G. Thorp, Katharina Bey, Christie L. Burton, Jurjen J. Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D. Askland, Julia Bäckman, Nerisa Banaj, Cristina Barlassina, Judith Be
Pubblicato in: Nature Genetics, Numero 57, 2025, Pagina/e 1389-1401, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-025-02189-z

Investigating genetically stratified subgroups to better understand the etiology of alcohol misuse

Autori: Anaïs B. Thijssen, null null, null null, Karen Chartier, null null, Ananda Amstadter, null null, Danielle M. Dick, null null, Emily Lilley, Renolda Gelzinis, Anne Morris, null null, Katie Bountress, Amy E. Adkins, Nathaniel Thomas, Zoe Neale, Kimberly Pedersen, Thomas Bannard, Seung B. Cho, null null, Peter Barr, Holly Byers, Erin C. Berenz, Erin Caraway, James S. Clifford, Megan Cooke, Elizabeth
Pubblicato in: Molecular Psychiatry, Numero 28, 2024, Pagina/e 4225-4233, ISSN 1359-4184
Editore: Nature Publishing Group
DOI: 10.1038/s41380-023-02174-0

The emergence of genetic variants linked to brain and cognitive traits in human evolution

Autori: Ilan Libedinsky, Yongbin Wei, Christiaan de Leeuw, James K Rilling, Danielle Posthuma, Martijn P van den Heuvel
Pubblicato in: Cerebral Cortex, Numero 35, 2025, ISSN 1047-3211
Editore: Oxford University Press
DOI: 10.1093/cercor/bhaf127

Exploring the genetic overlap between twelve psychiatric disorders

Autori: ato Romero, Josefin Werme, Philip R. Jansen, Joel Gelernter, Murray B. Stein, Daniel Levey, Renato Polimanti, Christiaan de Leeuw, Danielle Posthuma, Mats Nagel, Sophie van der Sluis
Pubblicato in: Nature Genetics, Numero 54, 2022, Pagina/e 1795-1802, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-022-01245-2

On the interpretation of transcriptome-wide association studies

Autori: Christiaan de Leeuw, Josefin Werme, Jeanne E. Savage, Wouter J. Peyrot, Danielle Posthuma
Pubblicato in: PLOS Genetics, Numero 19(9): e101092, 2023, ISSN 1553-7390
Editore: Public Library of Science
DOI: 10.1371/journal.pgen.1010921

Genome-wide association studies

Autori: Emil Uffelmann, Qin Qin Huang, Nchangwi Syntia Munung, Jantina de Vries, Yukinori Okada, Alicia R. Martin, Hilary C. Martin, Tuuli Lappalainen & Danielle Posthuma
Pubblicato in: Nature Reviews Methods Primers, Numero August 29, 2021, 2021, Pagina/e Article number: 59, ISSN 2662-8449
Editore: Nature portfolio
DOI: 10.1038/s43586-021-00056-9

Prioritizing effector genes at trait-associated loci using multimodal evidence

Autori: Marijn Schipper, Christiaan A. de Leeuw, Bernardo A. P. C. Maciel, Douglas P. Wightman, Nikki Hubers, Dorret I. Boomsma, Michael C. O’Donovan, Danielle Posthuma
Pubblicato in: Nature Genetics, Numero 57, 2025, Pagina/e 323-333, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-025-02084-7

Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia

Autori: Douglas P. Wightman, Jeanne E. Savage, Christiaan A. de Leeuw, Iris E. Jansen, Danielle Posthuma
Pubblicato in: Scientific Reports, Numero 13, 2023, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-023-29108-8

Demystifying non-coding GWAS variants: an overview of computational tools and methods

Autori: Marijn Schipper, Danielle Posthuma
Pubblicato in: Human Molecular Genetics, Numero Volume 31, Numero R1, 2022, Pagina/e R73-R83, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddac198

Addressing the ethical and societal challenges posed by genome-wide association studies of behavioral and brain-related traits

Autori: Matthieu C. de Hemptinne, Danielle Posthuma
Pubblicato in: Nature Neuroscience, Numero 26, 2023, Pagina/e 932-941, ISSN 1097-6256
Editore: Nature Publishing Group
DOI: 10.1038/s41593-023-01333-4

Mapping the genetic evolutionary timeline of human neural and cognitive traits

Autori: Ilan Libedinsky; Yongbin Wei; Christiaan de Leeuw; James K. Rilling; Danielle Posthuma; Martijn P. van den Heuvel
Pubblicato in: bioRxiv, Numero Sep 28, 2023, 2023
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.02.05.525539

Genome-wide association study of cerebellar volume

Autori: E.P. Tissink, S.C. de Lange, J.E. Savage, D.P. Wightman, K.M. Kelly, M. Nagel, M.P. van den Heuvel, D. Posthuma
Pubblicato in: bioRxiv, Numero November 4, 2021, 2021
Editore: bioRxiv
DOI: 10.1101/2021.11.04.467250

Patient iPSC-derived astrocytes with high polygenic risk for schizophrenia reveals a role for mitochondrial glutamate carrier SLC25A18

Autori: Stephanie Beekhuis-Hoekstra; Karen Laupman; Yongbin Wei; Kyoko Watanabe; Paulien Cornelissen-Steijger; Patrick Sullivan; Danielle Posthuma; Vivi Heine
Pubblicato in: Research Square, Numero 15 JUl, 2022, 2022, ISSN 2693-5015
Editore: Research Square
DOI: 10.21203/rs.3.rs-1811182/v1

Reconsidering the validity of transcriptome-wide association studies

Autori: Christiaan de Leeuw, Josefin Werme, Jeanne Savage, Wouter Peyrot, Danielle Posthuma
Pubblicato in: BioRxiv, Numero August 15, 2021, 2021
Editore: BioRxiv
DOI: 10.1101/2021.08.15.456414

Largest GWAS (N=1,126,563) of Alzheimer’s Disease Implicates Microglia and Immune Cells

Autori: Douglas P Wightman, Iris E Jansen, Jeanne E. Savage, Alexey A Shadrin, Shahram Bahrami, Arvid Rongve, Sigrid Børte, Bendik S Winsvold, Ole Kristian Drange, Amy E Martinsen, Anne Heidi Skogholt, Cristen Willer, Geir Bråthen, Ingunn Bosnes, Jonas Bille Nielsen, Lars Fritsche, Laurent F. Thomas, Linda M Pedersen, Maiken E Gabrielsen, Marianne Bakke Johnsen, Tore Wergeland Meisingset, Wei Zhou, Petr
Pubblicato in: medRxiv, 2022
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2020.11.20.20235275

Estimating Disorder Probability Based on Polygenic Prediction Using the BPC Approach

Autori: Emil Uffelmann, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Alkes L. Price, Danielle Posthuma, Wouter J. Peyrot
Pubblicato in: medRxiv, Numero January 14, 2024, 2024
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2024.01.12.24301157

The genetic landscape of heterogeneity in human functional brain connectivity

Autori: Bernardo de APC Maciel, Marijn Schipper, Cato Romero, Christiaan de Leeuw, Koen Helwegen, Danielle Posthuma, Jeanne E. Savage, Martijn P. van den Heuvel
Pubblicato in: medRxiv, 2025
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2025.04.08.25325384

Genomic analyses reveal new insights into Alzheimer’s disease

Autori: Emil Uffelmann, Douglas P. Wightman, Shahram Bahrami, Alexey A. Shadrin, Vera Fominykh, Takafumi Ojima, Chenyang Jiang, Christian Benner, Elisa Moreno, Adrian I. Campos, Jesper Q. Thomassen, Emmanuel Minois-Genin, Hei Man Wu, G. Bragi Walters, Richard Sherva, Tian Lin, Julien Bryois, Kristi Krebs, Marijn Schipper, Akira Narita, Alessandro Serretti, Anja H. Simonsen, Anna L. van Seumeren, Anne Corb
Pubblicato in: medRxiv, 2025, ISSN 3067-2007
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2025.10.10.25337470

Local Genetic Sex Differences in Quantitative Traits

Autori: Emil Uffelmann, Christiaan de Leeuw, Danielle Posthuma
Pubblicato in: medRxiv, Numero May 4, 2023, 2023
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.05.04.539410

Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer’s Disease

Autori: Douglas P Wightman, Jeanne E Savage, Christiaan A de Leeuw, Iris E Jansen, Danielle Posthuma
Pubblicato in: medRxiv, Numero October 18, 2021, 2021
Editore: medRxiv
DOI: 10.1101/2021.10.17.21265070

Re-Evaluating Local Genetic Correlation Analysis in the HDL Framework

Autori: Christiaan de Leeuw, Josefin Werme, Danielle Posthuma
Pubblicato in: Preprints.org, 2025
Editore: MDPI AG
DOI: 10.20944/preprints202507.0966.v1

Genome-wide meta-analysis of insomnia in over 2.3 million individuals implicates involvement of specific biological pathways through gene-prioritization

Autori: Kyoko Watanabe, Philip R. Jansen, Jeanne E. Savage, Priyanka Nandakumar, Xin Wang, 23andMe Research Team, David A. Hinds, Joel Gelernter, Daniel F. Levey, Renato Polimanti, Murray B. Stein, Eus J.W. Van Someren, August B. Smit, Danielle Posthuma
Pubblicato in: medRxiv, Numero December 7, 2020, 2020
Editore: bioRxiv
DOI: 10.1101/2020.12.07.20245209

Simplifying causal gene identification in GWAS loci

Autori: Marijn Schipper, Jacob Ulirsch, Danielle Posthuma, Stephan Ripke, Karl Heilbron
Pubblicato in: medRxiv, 2025
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2024.07.26.24311057

Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study

Autori: E.P. Tissink; A.A. Shadrin; D. van der Meer; N. Parker; G. Hindley; D. Roelfs; O. Frei; C.C. Fan; M. Nagel; T. Nærland; M. Budisteanu; S. Djurovic; L. T. Westlye; M.P. van den Heuvel; D. Posthuma; T. Kaufmann; A.M. Dale; O.A. Andreassen
Pubblicato in: bioRxiv, Numero 20 December, 2022, 2022
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2022.12.20.521181

Local genetic correlation analysis links depression with molecular and brain imaging endophenotypes

Autori: J. Werme; E.P. Tissink; S.C. de Lange; M.P. van den Heuvel; D. Posthuma; C.A. de Leeuw
Pubblicato in: medRxiv, Numero March 3, 2023, 2023
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.03.01.23286613

Identifying drug targets for schizophrenia through gene prioritization

Autori: Julia Kraft, Alice Braun, Swapnil Awasthi, Georgia Panagiotaropoulou, Marijn Schipper, Nathaniel Bell, Danielle Posthuma, Antonio F. Pardiñas, null null, Stephan Ripke, Karl Heilbron
Pubblicato in: medRxiv, 2024
Editore: Cold Spring Harbor Laboratory
DOI: 10.1101/2024.05.15.24307423

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