受强制性开放获取政策约束的文章 - Riccardo Sangermano了解详情
可在其他位置公开访问的文章：16 篇
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
强制性开放获取政策： Research Foundation (Flanders), Netherlands Organisation for Scientific …
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
强制性开放获取政策： European Commission
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
强制性开放获取政策： Research Foundation (Flanders), National Institute for Health Research, UK
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
强制性开放获取政策： US National Institutes of Health
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
强制性开放获取政策： Research Foundation (Flanders)
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
强制性开放获取政策： Fondazione Telethon, Italy
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
强制性开放获取政策： Netherlands Organisation for Scientific Research
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
强制性开放获取政策： US National Institutes of Health
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
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health …
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
强制性开放获取政策： Fondazione Telethon, Italy
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
强制性开放获取政策： US National Institutes of Health
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
S Malka, P Biswas, AM Berry, R Sangermano, M Ullah, S Lin, M D’Antonio, ...
The American Journal of Human Genetics 111 (9), 2012-2030, 2024
强制性开放获取政策： Cancer Research UK, UK Medical Research Council, National Institute for …
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration
R Sangermano, P Biswas, LS Sullivan, EM Place, S Borooah, ...
Molecular Case Studies 8 (7), a006247, 2022
强制性开放获取政策： US National Institutes of Health
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M Quinodoz, K Rodenburg, Z Cvackova, K Kaminska, SE de Bruijn, ...
medRxiv, 2025.01. 06.24317169, 2025
强制性开放获取政策： Fonds de recherche du Québec - Santé, Science Foundation Ireland …
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
R Sangermano, P Gupta, C Price, J Han, J Navarro, C Condroyer, ...
npj Genomic Medicine 9 (1), 58, 2024
强制性开放获取政策： Agence Nationale de la Recherche
PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.
C Hallock, R Sangermano, E De Baere, S Lin, J Thompson, P Escher, ...
Investigative Ophthalmology & Visual Science 65 (7), 5297-5297, 2024
强制性开放获取政策： National Institute for Health Research, UK
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