| 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 | 117 | 2020 |
| 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 |
| DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome SL Stenton, M Tesarova, NL Sheremet, CB Catarino, V Carelli, E Ciara, ... Brain 145 (5), 1624-1631, 2022 | 29 | 2022 |
| Peripapillary microcirculation in Leber hereditary optic neuropathy B Kousal, H Kolarova, M Meliska, J Bydzovsky, P Diblik, J Kulhanek, ... Acta Ophthalmologica 97 (1), e71-e76, 2019 | 29 | 2019 |
| Stereotactic radiotherapy for wet age-related macular degeneration (INTREPID): influence of baseline characteristics on clinical response TL Jackson, EM Shusterman, M Arnoldussen, E Chell, K Wang, ... Retina 35 (2), 194-204, 2015 | 25 | 2015 |
| Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants B Kousal, L Dudakova, R Gaillyova, M Hejtmankova, P Diblik, ... Graefe's Archive for Clinical and Experimental Ophthalmology 254, 1833-1839, 2016 | 24 | 2016 |
| A randomized controlled trial of OPT-302, a VEGF-C/D inhibitor for neovascular age-related macular degeneration TL Jackson, J Slakter, M Buyse, K Wang, PU Dugel, CC Wykoff, DS Boyer, ... Ophthalmology 130 (6), 588-597, 2023 | 23 | 2023 |
| Severe retinal degeneration in women with a c. 2543del mutation in ORF15 of the RPGR gene B Kousal, P Skalicka, L Valesova, T Fletcher, N Hart-Holden, A O'Grady, ... Molecular vision 20, 1307, 2014 | 21 | 2014 |
| Review of SRD5A3 disease-causing sequence variants and ocular findings in steroid 5α-reductase type 3 congenital disorder of glycosylation, and a detailed new case B Kousal, T Honzík, H Hansíková, N Ondrušková, A Čechová, M Tesařová, ... Folia Biol (Praha) 65 (3), 134-141, 2019 | 18 | 2019 |
| Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient F Majer, B Kousal, P Dusek, L Piherova, M Reboun, R Mihalova, J Gurka, ... American Journal of Medical Genetics Part A 182 (1), 219-223, 2020 | 15 | 2020 |
| Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy S Van de Sompele, KW Small, MB Cicekdal, VL Soriano, E D’haene, ... The American Journal of Human Genetics 109 (11), 2029-2048, 2022 | 13 | 2022 |
| Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease B Kousal, F Majer, H Vlaskova, L Dvorakova, L Piherova, M Meliska, ... Acta Ophthalmologica 99 (1), 61-68, 2021 | 12 | 2021 |
| Optická koherenční tomografie P Němec, B Kousal, V Löfflerová Maxdorf, 2022 | 8 | 2022 |
| Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-Hydroxyacyl-CoA dehydrogenase deficiency and medium chain acyl-CoA … K Rücklová, E Hrubá, M Pavlíková, P Hanák, M Farolfi, P Chrastina, ... Nutrients 13 (9), 2925, 2021 | 7 | 2021 |
| ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings M Farolfi, A Cechova, N Ondruskova, J Zidkova, B Kousal, H Hansikova, ... BMC ophthalmology 21 (1), 249, 2021 | 6 | 2021 |
| Clinical and genetic study of X-linked juvenile retinoschisis in the Czech Population B Kousal, L Hlavata, H Vlaskova, L Dvorakova, M Brichova, Z Dubska, ... Genes 12 (11), 1816, 2021 | 5 | 2021 |
| Cytomegalovirus retinitis in HIV negative patients-retrospective study A Beňová, M Brichová, P Svozílková, B Kousal, D Jeníčková, ... Ceska a Slovenska Oftalmologie: Casopis Ceske Oftalmologicke Spolecnosti a …, 2013 | 5 | 2013 |
| Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy. J Nekolova, A Stepanov, B Kousal, M Stredova, N Jiraskova Biomedical Papers of the Medical Faculty of Palacky University in Olomouc …, 2022 | 4 | 2022 |
| Preimplantation genetic diagnosis and monogenic inherited eye diseases L Hlavatá, Ľ Ďuďáková, M Trková, I Soldátová, P Skalická, B Kousal, ... Ceska a Slovenska Oftalmologie: Casopis Ceske Oftalmologicke Spolecnosti a …, 2016 | 4 | 2016 |
| Minimal ocular findings in a patient with Best disease caused by the c. 653G> A mutation in BEST1 B Kousal, F Chakarova, GC Black, S Ramsden, H Langrová, P Lisková Ceska a Slovenska Oftalmologie: Casopis Ceske Oftalmologicke Spolecnosti a …, 2011 | 4 | 2011 |
Petra LiskovaCharles University, Prague在 lf1.cuni.cz 的电子邮件经过验证
