Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

234 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.
Liao X, Ederveen THA, Niehues A, de Visser C, Huang J, Badmus F, Doornbos C, Orlova Y, Kulkarni P, van der Velde KJ, Swertz MA, Brandt M, van Gool AJ, 't Hoen PAC. Liao X, et al. Among authors: t hoen pac. J Biomed Semantics. 2024 Dec 28;15(1):20. doi: 10.1186/s13326-024-00321-2. J Biomed Semantics. 2024. PMID: 39732721 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response.
van de Wal MAE, Doornbos C, Bibbe JM, Homberg JR, van Karnebeek C, Huynen MA, Keijer J, van Schothorst EM, 't Hoen PAC, Janssen MCH, Adjobo-Hermans MJW, Wieckowski MR, Koopman WJH. van de Wal MAE, et al. Among authors: t hoen pac. Biochim Biophys Acta Proteins Proteom. 2025 Jan 1;1873(1):141055. doi: 10.1016/j.bbapap.2024.141055. Epub 2024 Oct 11. Biochim Biophys Acta Proteins Proteom. 2025. PMID: 39395749 Free article.
A proteogenomic atlas of the human neural retina.
Riepe TV, Stemerdink M, Salz R, Rey AD, de Bruijn SE, Boonen E, Tomkiewicz TZ, Kwint M, Gloerich J, Wessels HJCT, Delanote E, De Baere E, van Nieuwerburgh F, De Keulenaer S, Ferrari B, Ferrari S, Coppieters F, Cremers FPM, van Wyk E, Roosing S, de Vrieze E, 't Hoen PAC. Riepe TV, et al. Among authors: t hoen pac. Front Genet. 2024 Sep 19;15:1451024. doi: 10.3389/fgene.2024.1451024. eCollection 2024. Front Genet. 2024. PMID: 39371417 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT.
Bayjanov JR, Doornbos C, Ozisik O, Shin W, Queralt-Rosinach N, Wijnbergen D, Saulnier-Blache JS, Schanstra JP, Buffin-Meyer B, Klein J, Fernández JM, Kaliyaperumal R, Baudot A, 't Hoen PAC, Ehrhart F. Bayjanov JR, et al. Among authors: t hoen pac. Sci Rep. 2024 Sep 5;14(1):20731. doi: 10.1038/s41598-024-71721-8. Sci Rep. 2024. PMID: 39237660 Free PMC article.
Multi-omic profiling of pathogen-stimulated primary immune cells.
Salz R, Vorsteveld EE, van der Made CI, Kersten S, Stemerdink M, Riepe TV, Hsieh TH, Mhlanga M, Netea MG, Volders PJ, Hoischen A, 't Hoen PAC. Salz R, et al. Among authors: t hoen pac. iScience. 2024 Jul 6;27(8):110471. doi: 10.1016/j.isci.2024.110471. eCollection 2024 Aug 16. iScience. 2024. PMID: 39091463 Free PMC article.
234 results