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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

116 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: podhajcer ol. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; Disease Consortium Study Group. Runhart EH, et al. JAMA Ophthalmol. 2020 Oct 1;138(10):1035-1042. doi: 10.1001/jamaophthalmol.2020.2990. JAMA Ophthalmol. 2020. PMID: 32815999 Free PMC article.
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD, Moresco AA, Vidal SH, Aguilar-Cortes D, Obregon MG, Fandiño AC, Sendoya JM, Llera AS, Podhajcer OL. Mena MD, et al. Among authors: podhajcer ol. Front Genet. 2021 Mar 26;12:646058. doi: 10.3389/fgene.2021.646058. eCollection 2021. Front Genet. 2021. PMID: 33841504 Free PMC article.
Clinical, Genomic, and Pharmacological Study of MYCN-Amplified RB1 Wild-Type Metastatic Retinoblastoma.
Zugbi S, Ganiewich D, Bhattacharyya A, Aschero R, Ottaviani D, Sampor C, Cafferata EG, Mena M, Sgroi M, Winter U, Lamas G, Suñol M, Daroqui M, Baialardo E, Salas B, Das A, Fandiño A, Francis JH, Lubieniecki F, Lavarino C, Garippa R, Podhajcer OL, Abramson DH, Radvanyi F, Chantada G, Llera AS, Schaiquevich P. Zugbi S, et al. Among authors: podhajcer ol. Cancers (Basel). 2020 Sep 22;12(9):2714. doi: 10.3390/cancers12092714. Cancers (Basel). 2020. PMID: 32971811 Free PMC article.
116 results