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

498 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Kucuk E, van der Sanden BPGH, O'Gorman L, Kwint M, Derks R, Wenger AM, Lambert C, Chakraborty S, Baybayan P, Rowell WJ, Brunner HG, Vissers LELM, Hoischen A, Gilissen C. Kucuk E, et al. Among authors: brunner hg. Genome Med. 2023 May 8;15(1):34. doi: 10.1186/s13073-023-01183-6. Genome Med. 2023. PMID: 37158973 Free PMC article.
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.
Stroeks SLVM, Hellebrekers D, Claes GRF, Krapels IPC, Henkens MHTM, Sikking M, Vanhoutte EK, Helderman-van den Enden A, Brunner HG, van den Wijngaard A, Verdonschot JAJ. Stroeks SLVM, et al. Among authors: brunner hg. Eur J Hum Genet. 2023 Jul;31(7):776-783. doi: 10.1038/s41431-023-01384-y. Epub 2023 May 17. Eur J Hum Genet. 2023. PMID: 37198425 Free PMC article.
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.
Andersson-Assarsson JC, van Deuren RC, Kristensson FM, Steehouwer M, Sjöholm K, Svensson PA, Pieterse M, Gilissen C, Taube M, Jacobson P, Perkins R, Brunner HG, Netea MG, Peltonen M, Carlsson B, Hoischen A, Carlsson LMS. Andersson-Assarsson JC, et al. Among authors: brunner hg. EBioMedicine. 2023 Jun;92:104621. doi: 10.1016/j.ebiom.2023.104621. Epub 2023 May 18. EBioMedicine. 2023. PMID: 37209535 Free PMC article.
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: brunner hg. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 Free PMC article.
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ, Koeck RM, Essers R, Cao P, van Dijk W, Drüsedau M, Meekels J, Yaldiz B, van de Vorst M, de Koning B, Hellebrekers DMEI, Stevens SJC, Sun SM, Heijligers M, de Munnik SA, van Uum CMJ, Achten J, Hamers L, Naghdi M, Vissers LELM, van Golde RJT, de Wert G, Dreesen JCFM, de Die-Smulders C, Coonen E, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. Janssen AEJ, et al. Among authors: brunner hg. Nat Commun. 2024 Sep 2;15(1):7164. doi: 10.1038/s41467-024-51508-1. Nat Commun. 2024. PMID: 39223156 Free PMC article.
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. Tomas-Roca L, et al. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199. Nat Commun. 2015. PMID: 26068067 Free PMC article.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL. Bolar NA, et al. Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028. Am J Hum Genet. 2016. PMID: 27392076 Free PMC article.
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A. Kargapolova Y, et al. Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1. Nat Commun. 2021. PMID: 34021162 Free PMC article.
498 results