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

103 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Eur J Hum Genet. 2024 Feb;32(2):200-208. doi: 10.1038/s41431-023-01478-7. Epub 2023 Oct 19. Eur J Hum Genet. 2024. PMID: 37853102 Free PMC article.
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Eur J Hum Genet. 2024 Feb;32(2):248. doi: 10.1038/s41431-023-01492-9. Eur J Hum Genet. 2024. PMID: 37973950 Free PMC article. No abstract available.
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Ferreira EA, Buijs MJN, Wijngaard R, Daams JG, Datema MR, Engelen M, van Karnebeek CDM, Oud MM, Vaz FM, Wamelink MMC, van der Crabben SN, Langeveld M. Ferreira EA, et al. Among authors: wijngaard r. Front Neurol. 2023 Jul 25;14:1206106. doi: 10.3389/fneur.2023.1206106. eCollection 2023. Front Neurol. 2023. PMID: 37560457 Free PMC article.
Candida spp. in Human Intestinal Health and Disease: More than a Gut Feeling.
Kreulen IAM, de Jonge WJ, van den Wijngaard RM, van Thiel IAM. Kreulen IAM, et al. Among authors: van den wijngaard rm. Mycopathologia. 2023 Dec;188(6):845-862. doi: 10.1007/s11046-023-00743-z. Epub 2023 Jun 9. Mycopathologia. 2023. PMID: 37294505 Free PMC article. Review.
103 results