| Presence of genetic variants among young men with severe COVID-19 CI Van Der Made, A Simons, J Schuurs-Hoeijmakers, G van den Heuvel, ... Jama 324 (7), 663-673, 2020 | 737 | 2020 |
| The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies RWN Slijkerman, F Song, GDN Astuti, MA Huynen, E van Wijk, K Stieger, ... Progress in retinal and eye research 48, 137-159, 2015 | 109 | 2015 |
| Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark GDN Astuti, M Bertelsen, MN Preising, M Ajmal, B Lorenz, SMH Faradz, ... European Journal of Human Genetics 24 (7), 1071-1079, 2016 | 84 | 2016 |
| Hagmolen of ten Have W CI Van Der Made, A Simons, J Schuurs-Hoeijmakers, G Van Den Heuvel, ... Klijn E MD, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers CP …, 2020 | 52 | 2020 |
| Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping AM Siemiatkowska, K Arimadyo, LM Moruz, GDN Astuti, M de Castro-Miro, ... Molecular vision 17, 3013, 2011 | 51 | 2011 |
| A de novo paradigm for male infertility MS Oud, RM Smits, HE Smith, FK Mastrorosa, GS Holt, BJ Houston, ... Nature communications 13 (1), 154, 2022 | 47 | 2022 |
| Whole-exome sequencing identifies biallelic IDH3A variants as a cause of retinitis pigmentosa accompanied by pseudocoloboma LHM Pierrache, A Kimchi, R Ratnapriya, L Roberts, GDN Astuti, ... Ophthalmology 124 (7), 992-1003, 2017 | 42 | 2017 |
| Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders MS Oud, BJ Houston, L Volozonoka, FK Mastrorosa, GS Holt, ... Human Reproduction 36 (9), 2597-2611, 2021 | 36 | 2021 |
| Novel insights into the molecular pathogenesis of CYP4V2‐associated Bietti's retinal dystrophy GDN Astuti, V Sun, M Bauwens, D Zobor, BP Leroy, A Omar, B Jurklies, ... Molecular genetics & genomic medicine 3 (1), 14-29, 2015 | 35 | 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 | 33 | 2019 |
| Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Z Fadaie, L Whelan, T Ben-Yosef, A Dockery, Z Corradi, C Gilissen, ... NPJ genomic medicine 6 (1), 97, 2021 | 27 | 2021 |
| Mutations in AGBL5, encoding α-tubulin deglutamylase, are associated with autosomal recessive retinitis pigmentosa GDN Astuti, G Arno, S Hull, L Pierrache, H Venselaar, K Carss, ... Investigative ophthalmology & visual science 57 (14), 6180-6187, 2016 | 27 | 2016 |
| Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family AM Siemiatkowska, GDN Astuti, K Arimadyo, AI den Hollander, ... Molecular vision 18, 2411, 2012 | 27 | 2012 |
| Identification of inherited retinal disease-associated genetic variants in 11 candidate genes GDN Astuti, LI van Den Born, MI Khan, CP Hamel, B Bocquet, G Manes, ... Genes 9 (1), 21, 2018 | 26 | 2018 |
| 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 |
| De novo mutations in children born after medical assisted reproduction RM Smits, MJ Xavier, MS Oud, GDN Astuti, AM Meijerink, PF de Vries, ... Human Reproduction 37 (6), 1360-1369, 2022 | 15 | 2022 |
| Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome J Van der Spek, J Den Hoed, LS Blok, AJM Dingemans, D Schijven, ... Genetics in Medicine 24 (6), 1283-1296, 2022 | 12 | 2022 |
| Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction J Reurink, N Weisschuh, A Garanto, A Dockery, LI van den Born, I Fajardy, ... Human Genetics and Genomics Advances 4 (2), 2023 | 8 | 2023 |
| Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant J Reurink, E De Vrieze, CHZ Li, E van Berkel, S Broekman, M Aben, ... NPJ Genomic Medicine 7 (1), 37, 2022 | 6 | 2022 |
| CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids TAV Afanasyeva, D Athanasiou, PRL Perdigao, KR Whiting, L Duijkers, ... Molecular Therapy-Methods & Clinical Development 29, 522-531, 2023 | 4 | 2023 |
