Defining how environmental factors influence downstream effects of immune-mediated disease risk-SNPs

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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Autores: Urmo Võsa, Annique Claringbould, Harm-Jan Westra, Marc Jan Bonder, Patrick Deelen, Biao Zeng, Holger Kirsten, Ashis Saha, Roman Kreuzhuber, Seyhan Yazar, Harm Brugge, Roy Oelen, Dylan H. de Vries, Monique G. P. van der Wijst, Silva Kasela, Natalia Pervjakova, Isabel Alves, Marie-Julie Favé, Mawussé Agbessi, Mark W. Christiansen, Rick Jansen, Ilkka Seppälä, Lin Tong, Alexander Teumer, Katharin
Publicado en: Nature Genetics, Edición 53/9, 2021, Página(s) 1300-1310, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-021-00913-z

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Autores: Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbl
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-019-10649-4

Translational insights from single-cell technologies across the cardiovascular disease continuum

Autores: Irene V. van Blokland, Hilde E. Groot, Lude H. Franke, Monique G.P. van der Wijst, Pim van der Harst
Publicado en: Trends in Cardiovascular Medicine, 2021, ISSN 1050-1738
Editor: Elsevier BV
DOI: 10.1016/j.tcm.2021.02.009

The single-cell eQTLGen consortium

Autores: MGP van der Wijst, DH de Vries, HE Groot, G Trynka, CC Hon, MJ Bonder, O Stegle, MC Nawijn, Y Idaghdour, P van der Harst, CJ Ye, J Powell, FJ Theis, A Mahfouz, M Heinig, L Franke
Publicado en: eLife, Edición 9, 2020, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.7554/elife.52155

Correction for both common and rare cell types in blood is important to identify genes that correlate with age

Autores: Damiano Pellegrino-Coppola, Annique Claringbould, Maartje Stutvoet, Dorret I. Boomsma, M. Arfan Ikram, P. Eline Slagboom, Harm-Jan Westra, Lude Franke
Publicado en: BMC Genomics, Edición 22/1, 2021, ISSN 1471-2164
Editor: BioMed Central
DOI: 10.1186/s12864-020-07344-w

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Autores: Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover-Fong, Aida B. Telegrafi, Anne Destree, Robert Smigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G. Nur, Ercan Mihci, Lilia M. A. Moreira, Viviane Borges Ferreira, Dafne D. G. Horovitz, Katia M. da Roch
Publicado en: PLOS Genetics, Edición 13/3, 2017, Página(s) e1006683, ISSN 1553-7404
Editor: Public Library of Science
DOI: 10.1371/journal.pgen.1006683

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

Autores: Monique G. P. van der Wijst, Harm Brugge, Dylan H. de Vries, Patrick Deelen, Morris A. Swertz, Lude Franke
Publicado en: Nature Genetics, Edición 50/4, 2018, Página(s) 493-497, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0089-9

Integrating GWAS with bulk and single-cell RNA-sequencing reveals a role for LY86 in the anti-Candida host response

Autores: Dylan H. de Vries, Vasiliki Matzaraki, Olivier B. Bakker, Harm Brugge, Harm-Jan Westra, Mihai G. Netea, Lude Franke, Vinod Kumar, Monique G. P. van der Wijst
Publicado en: PLOS Pathogens, Edición 16/4, 2020, Página(s) e1008408, ISSN 1553-7374
Editor: Public Library of Science
DOI: 10.1371/journal.ppat.1008408

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