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

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 1
2013 4
2014 2
2015 4
2016 4
2017 7
2018 4
2019 3
2020 1
2021 6
2022 7
2023 3
Text availability
Article attribute
Article type
Publication date

Search Results

38 results
Results by year
Filters applied: . Clear all
Page 1
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE. Velde HM, et al. Among authors: haer wigman l. Hum Genet. 2022 Nov;141(11):1723-1738. doi: 10.1007/s00439-022-02441-0. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226187 Free PMC article.
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J, de Vrieze E, Li CHZ, van Berkel E, Broekman S, Aben M, Peters T, Oostrik J, Neveling K, Venselaar H, Ramos MG, Gilissen C, Astuti GDN, Galbany JC, van Lith-Verhoeven JJC, Ockeloen CW, Haer-Wigman L, Hoyng CB, Cremers FPM, Kremer H, Roosing S, van Wijk E. Reurink J, et al. Among authors: haer wigman l. NPJ Genom Med. 2022 Jun 7;7(1):37. doi: 10.1038/s41525-022-00306-z. NPJ Genom Med. 2022. PMID: 35672333 Free PMC article.
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, Yntema HG. van der Schoot V, et al. Among authors: haer wigman l. Eur J Hum Genet. 2022 Feb;30(2):170-177. doi: 10.1038/s41431-021-00964-0. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697415 Free PMC article.
Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.
de Breuk A, Acar IE, Kersten E, Schijvenaars MMVAP, Colijn JM, Haer-Wigman L, Bakker B, de Jong S, Meester-Smoor MA, Verzijden T, Missotten TOAR, Monés J, Biarnés M, Pauleikhoff D, Hense HW, Silva R, Nunes S, Melo JB, Fauser S, Hoyng CB, Ueffing M, Coenen MJH, Klaver CCW, den Hollander AI; EYE-RISK Consortium. de Breuk A, et al. Among authors: haer wigman l. Ophthalmology. 2021 Nov;128(11):1604-1617. doi: 10.1016/j.ophtha.2020.07.037. Epub 2020 Jul 25. Ophthalmology. 2021. PMID: 32717343 Free article.
Long-read technologies identify a hidden inverted duplication in a family with choroideremia.
Fadaie Z, Neveling K, Mantere T, Derks R, Haer-Wigman L, den Ouden A, Kwint M, O'Gorman L, Valkenburg D, Hoyng CB, Gilissen C, Vissers LELM, Nelen M, Cremers FPM, Hoischen A, Roosing S. Fadaie Z, et al. Among authors: haer wigman l. HGG Adv. 2021 Jul 20;2(4):100046. doi: 10.1016/j.xhgg.2021.100046. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047838 Free PMC article.
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI. Pierrache LHM, et al. Among authors: haer wigman l. Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531. Invest Ophthalmol Vis Sci. 2019. PMID: 31074760
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Among authors: haer wigman l. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
38 results