Riccardo Sangermano
Riccardo Sangermano
Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School
Email verificata su MEEI.HARVARD.EDU - Home page
Titolo
Citata da
Citata da
Anno
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
652016
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
592015
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
522018
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
462018
Carel B. Hoyng, 2, 4 Jana Zernant, 5 Winston Lee, 5 Rando Allikmets, 5, 6 Rob WJ Collin, and Frans PM Cremers
S Albert, A Garanto, R Sangermano, M Khan, NM Bax
46*2018
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, 1, 2019
442019
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, 1, 2019
432019
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
382015
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
302018
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
102012
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Mntrier-like gastropathy
P Piccolo, S Attanasio, I Secco, R Sangermano, C Strisciuglio, ...
Human molecular genetics 26 (1), 33-43, 2016
82016
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
62019
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, ...
bioRxiv, 766717, 2019
62019
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency
M Khan, SS Cornelis, R Sangermano, IJM Post, A Janssen Groesbeek, ...
International Journal of Molecular Sciences 21 (7), 2300, 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
Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells
S Albert, R Sangermano, N Bax, S Roosing, L van den Born, ...
Association for Research in Vision and Ophthalmology, 2015
12015
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
2020
Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease
RWJ Collin, M Khan, R Sangermano, S Naessens, M Bauwens, ...
Investigative Ophthalmology & Visual Science 60 (9), 3401-3401, 2019
2019
Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease
EHH Runhart, D Valkenburg, S Cornelis, M Khan, R Sangermano, ...
Investigative Ophthalmology & Visual Science 60 (9), 1338-1338, 2019
2019
Hidden genetic variation in Stargardt disease: novel copy number variations, cis-regulatory and deep-intronic splice variants of the ABCA4 locus
M Bauwens, R Sangermano, T Cherry, C Van Cauwenbergh, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 68-69, 2018
2018
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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