| 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 | 186 | 2019 |
| 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 | 176 | 2018 |
| 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 | 160 | 2019 |
| 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 | 143 | 2018 |
| 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 | 136 | 2016 |
| 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 | 89 | 2018 |
| 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 | 89 | 2015 |
| 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 | 79 | 2015 |
| 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 | 40 | 2019 |
| 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 | 28 | 2020 |
| 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 | 15 | 2021 |
| 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 | 15 | 2017 |
| 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 | 13 | 2020 |
| 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 | 12 | 2012 |
| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum DG Calame, JH Wong, P Panda, DT Nguyen, NCP Leong, R Sangermano, ... Genetics in Medicine 27 (1), 101273, 2025 | 2 | 2025 |
| 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 | 2 | 2022 |
| 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 | 2 | 2020 |
| Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics K Nakamichi, J Huey, R Sangermano, EM Place, KM Bujakowska, ... JCI insight 9 (20), e183902, 2024 | 1 | 2024 |
| 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 | 1 | 2024 |
| Clinician-driven reanalysis of exome sequencing data from patients with inherited retinal diseases JH Dongheon Surl, Dongju Won, Seung-Tae Lee, Christopher Seungkyu Lee ... JAMA Netw Open 7 (5), 2024 | 1 | 2024 |
Silvia AlbertRadboudUMC在 radboudumc.nl 的电子邮件经过验证
