| 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 | 170 | 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 | 164 | 2018 |
| In Silico Functional Meta‐Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases SS Cornelis, NM Bax, J Zernant, R Allikmets, LG Fritsche, JT den Dunnen, ... Human mutation 38 (4), 400-408, 2017 | 143 | 2017 |
| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 108 | 2020 |
| 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 | 86 | 2018 |
| Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 Z Fadaie, M Khan, M Del Pozo‐Valero, SS Cornelis, C Ayuso, ... Human mutation 40 (12), 2365-2376, 2019 | 50 | 2019 |
| Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease M Khan, SS Cornelis, MI Khan, D Elmelik, E Manders, S Bakker, R Derks, ... Human Mutation 40 (10), 1749-1759, 2019 | 47 | 2019 |
| Association of sex with frequent and mild ABCA4 alleles in Stargardt disease EH Runhart, M Khan, SS Cornelis, S Roosing, M Del Pozo-Valero, ... JAMA ophthalmology 138 (10), 1035-1042, 2020 | 35 | 2020 |
| 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 | 34 | 2019 |
| Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity SS Cornelis, EH Runhart, M Bauwens, Z Corradi, E De Baere, S Roosing, ... The American Journal of Human Genetics 109 (3), 498-507, 2022 | 30 | 2022 |
| Author response: penetrance of the ABCA4 p. Asn1868Ile allele in Stargardt disease FPM Cremers, SS Cornelis, EH Runhart, GDN Astuti Investigative ophthalmology & visual science 59 (13), 5566-5568, 2018 | 20 | 2018 |
| Identification and analysis of genes associated with inherited retinal diseases M Khan, Z Fadaie, SS Cornelis, FPM Cremers, S Roosing Retinal Degeneration: Methods and Protocols, 3-27, 2019 | 17 | 2019 |
| 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 | 12 | 2020 |
| Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease SS Cornelis, M Bauwens, L Haer-Wigman, M De Bruyne, M Pantrangi, ... medRxiv, 2023.04. 24.23288782, 2023 | 7 | 2023 |
| Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability Z Corradi, M Khan, R Hitti-Malin, K Mishra, L Whelan, SS Cornelis, ... Human Genetics and Genomics Advances 4 (4), 2023 | 3 | 2023 |
| Genetic risk estimates for offspring of patients with Stargardt disease SS Cornelis, EH Runhart, M Bauwens, Z Corradi, E de Baere, S Roosing, ... medRxiv, 2021.08. 11.21261888, 2021 | 2 | 2021 |
| Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP … SS Cornelis, M Bauwens, L Haer-Wigman, M De Bruyne, M Pantrangi, ... Human Mutation 2023, 2023 | 1 | 2023 |
| Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis SS Cornelis, J IntHout, EH Runhart, O Grunewald, S Lin, Z Corradi, ... JAMA ophthalmology, 2024 | | 2024 |
| Understanding ABCA4 variant effects in Stargardt disease for personalised healthcare SS Cornelis Sl: sn, 2024 | | 2024 |
| Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity SS Cornelis, E Runhart, M Bauwens, Z Corradi, E De Baere, S Roosing, ... Investigative Ophthalmology & Visual Science 63 (7), 3766–F0187-3766–F0187, 2022 | | 2022 |
