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

Autori: 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
Pubblicato in: Nature Genetics, Numero 53/9, 2021, Pagina/e 1300-1310, ISSN 1061-4036
Editore: 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

Autori: 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
Pubblicato in: Nature Communications, Numero 10/1, 2019, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-019-10649-4

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

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

The single-cell eQTLGen consortium

Autori: 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
Pubblicato in: eLife, Numero 9, 2020, ISSN 2050-084X
Editore: 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

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

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

Autori: 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
Pubblicato in: PLOS Genetics, Numero 13/3, 2017, Pagina/e e1006683, ISSN 1553-7404
Editore: Public Library of Science
DOI: 10.1371/journal.pgen.1006683

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

Autori: Monique G. P. van der Wijst, Harm Brugge, Dylan H. de Vries, Patrick Deelen, Morris A. Swertz, Lude Franke
Pubblicato in: Nature Genetics, Numero 50/4, 2018, Pagina/e 493-497, ISSN 1061-4036
Editore: 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

Autori: 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
Pubblicato in: PLOS Pathogens, Numero 16/4, 2020, Pagina/e e1008408, ISSN 1553-7374
Editore: Public Library of Science
DOI: 10.1371/journal.ppat.1008408

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