Riccardo Sangermano

Riccardo Sangermano

Harvard University - Cambridge / United States
Medical and Health Sciences / Ophthalmology
AD Scientific Index ID: 1461370
person_outline Riccardo Sangermano's MOST POPULAR ARTICLES
1-) Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesR Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ...Genetics in Medicine 21 (8), 1751-1760, 20191242019
2-) ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt diseaseR Sangermano, M Khan, SS Cornelis, V Richelle, S Albert, A Garanto, ...Genome research 28 (1), 100-110, 20181102018
3-) ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent …M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ...Genetics in Medicine 21 (8), 1761-1771, 20191102019
4-) Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt diseaseS Albert, A Garanto, R Sangermano, M Khan, NM Bax, CB Hoyng, ...The American Journal of Human Genetics 102 (4), 517-527, 20181372018
5-) Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c. 5461-10T→ C mutation in Stargardt diseaseR Sangermano, NM Bax, M Bauwens, LI Van den Born, E De Baere, ...Ophthalmology 123 (6), 1375-1385, 20161312016