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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: mena md. 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.
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. Cancers (Basel). 2020 Sep 22;12(9):2714. doi: 10.3390/cancers12092714. Cancers (Basel). 2020. PMID: 32971811 Free PMC article.
Recurrent Somatic Chromosomal Abnormalities in Relapsed Extraocular Retinoblastoma.
Aschero R, Francis JH, Ganiewich D, Gomez-Gonzalez S, Sampor C, Zugbi S, Ottaviani D, Lemelle L, Mena M, Winter U, Correa Llano G, Lamas G, Lubieniecki F, Szijan I, Mora J, Podhajcer O, Doz F, Radvanyi F, Abramson DH, Llera AS, Schaiquevich PS, Lavarino C, Chantada GL. Aschero R, et al. Cancers (Basel). 2021 Feb 8;13(4):673. doi: 10.3390/cancers13040673. Cancers (Basel). 2021. PMID: 33567541 Free PMC article.
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G. Abd El-Aziz MM, et al. Nat Genet. 2008 Nov;40(11):1285-7. doi: 10.1038/ng.241. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836446 Free PMC article.
Genomic and Transcriptomic Tumor Heterogeneity in Bilateral Retinoblastoma.
Winter U, Ganiewich D, Ottaviani D, Zugbi S, Aschero R, Sendoya JM, Cafferata EG, Mena M, Sgroi M, Sampor C, Lubieniecki F, Fandiño A, Abba MC, Doz F, Podhjacer O, Carcaboso AM, Letouzé E, Radvanyi F, Chantada GL, Llera AS, Schaiquevich P. Winter U, et al. JAMA Ophthalmol. 2020 May 1;138(5):569-574. doi: 10.1001/jamaophthalmol.2020.0427. JAMA Ophthalmol. 2020. PMID: 32191268 Free PMC article.
13 results