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Riccardo Sangermano
Riccardo Sangermano
Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School
Verified email at MEEI.HARVARD.EDU - Homepage
Title
Cited by
Cited by
Year
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ...
Genetics in Medicine 21 (8), 1751-1760, 2019
1672019
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
R Sangermano, M Khan, SS Cornelis, V Richelle, S Albert, A Garanto, ...
Genome research 28 (1), 100-110, 2018
1612018
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic …
M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ...
Genetics in Medicine 21 (8), 1761-1771, 2019
1382019
Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease
S Albert, A Garanto, R Sangermano, M Khan, NM Bax, CB Hoyng, ...
The American Journal of Human Genetics 102 (4), 517-527, 2018
1262018
Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c. 5461-10T→ C mutation in Stargardt disease
R Sangermano, NM Bax, M Bauwens, LI Van den Born, E De Baere, ...
Ophthalmology 123 (6), 1375-1385, 2016
1212016
The common ABCA4 variant p. Asn1868Ile shows nonpenetrance and variable expression of Stargardt disease when present in trans with severe variants
EH Runhart, R Sangermano, SS Cornelis, JBGM Verheij, AS Plomp, ...
Investigative ophthalmology & visual science 59 (8), 3220-3231, 2018
842018
Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant
NM Bax, R Sangermano, S Roosing, AAHJ Thiadens, LH Hoefsloot, ...
Human mutation 36 (1), 43-47, 2015
842015
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
S Roosing, LI van den Born, R Sangermano, S Banfi, RK Koenekoop, ...
Ophthalmology 122 (1), 170-179, 2015
752015
Late-onset Stargardt disease due to mild, deep-intronic ABCA4 alleles
EH Runhart, D Valkenburg, SS Cornelis, M Khan, R Sangermano, ...
Investigative ophthalmology & visual science 60 (13), 4249-4256, 2019
312019
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families
R Bronstein, EE Capowski, S Mehrotra, AD Jansen, D Navarro-Gomez, ...
Human molecular genetics 29 (6), 967-979, 2020
162020
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy
P Piccolo, S Attanasio, I Secco, R Sangermano, C Strisciuglio, ...
Human Molecular Genetics 26 (1), 33-43, 2017
152017
In or out? New insights on exon recognition through splice-site interdependency
M Khan, S S. Cornelis, R Sangermano, I JM Post, A Janssen Groesbeek, ...
International Journal of Molecular Sciences 21 (7), 2300, 2020
122020
Autosomal dominant Menetrier-like disease
C Strisciuglio, VD Corleto, N Brunetti-Pierri, P Piccolo, R Sangermano, ...
Journal of pediatric gastroenterology and nutrition 55 (6), 717-720, 2012
122012
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
R Sangermano, I Deitch, VG Peter, R Ba-Abbad, EM Place, ...
NPJ genomic medicine 6 (1), 53, 2021
92021
Herausforderungen und Fallstricken zum Trotz: Wie die Ophthalmologie von Next-Generation Sequencing profitiert
HJ Bolz
Klinische Monatsblätter für Augenheilkunde 235 (03), 258-263, 2018
32018
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy
AJ Catomeris, BG Ballios, R Sangermano, NE Wagner, JI Comander, ...
Ophthalmic genetics 43 (3), 332-339, 2022
22022
Genetic testing of various eye disorders
R Sangermano, H Scott, N Wagner, E Place, KM Bujakowska
Genetics and Genomics of Eye Disease, 239-258, 2020
22020
Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome
R Sangermano, I Deitch, VG Peter, R Ba-Abbad, EM Place, NE Wagner, ...
medRxiv, 2020.08. 24.20179085, 2020
12020
Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease
A Garanto, R Sangermano, S Albert, M Khan, M Bauwens, S Naessens, ...
Investigative Ophthalmology & Visual Science 59 (9), 4532-4532, 2018
12018
ABCA4 mRNA analysis of iPSC-derived photoreceptor cells of Stargardt patients reveals protein-truncating non-canonical and deep-intronic splice site variants
S Albert, R Sangermano, NM Bax, M Bauwens, LI van den Born, ...
HUMAN GENE THERAPY 27 (11), A119-A119, 2016
12016
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