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Investigative Ophthalmology & Visual Science|October 17, 2019
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 AllelesEsmee H Runhart, Dyon Valkenburg, Stéphanie S Cornelis, et al.
Plos Genetics|September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screenJanine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
Human Molecular Genetics|December 26, 2016
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathyPasquale Piccolo, Sergio Attanasio, Ilaria Secco, et al.
Human Mutation|November 4, 2014
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variantNathalie M Bax, Riccardo Sangermano, Susanne Roosing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
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