Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367.
Biomolecules. 2024.
PMID: 38540785
Free PMC article.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S.
Panneman DM, et al. Among authors: boonen egm.
Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023.
Front Cell Dev Biol. 2023.
PMID: 36819107
Free PMC article.
Item in Clipboard
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Mc Clinton B, Corradi Z, McKibbin M, Panneman DM, Roosing S, Boonen EGM, Ali M, Watson CM, Steel DH, Cremers FPM, Inglehearn CF, Hitti-Malin RJ, Toomes C.
Mc Clinton B, et al. Among authors: boonen egm.
Genes (Basel). 2023 Jan 11;14(1):191. doi: 10.3390/genes14010191.
Genes (Basel). 2023.
PMID: 36672932
Free PMC article.
Item in Clipboard
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ, Dhaenens CM, Panneman DM, Corradi Z, Khan M, den Hollander AI, Farrar GJ, Gilissen C, Hoischen A, van de Vorst M, Bults F, Boonen EGM, Saunders P; MD Study Group; Roosing S, Cremers FPM.
Hitti-Malin RJ, et al. Among authors: boonen egm.
Hum Mutat. 2022 Dec;43(12):2234-2250. doi: 10.1002/humu.24489. Epub 2022 Oct 31.
Hum Mutat. 2022.
PMID: 36259723
Free PMC article.
Item in Clipboard
Cite
Cite