Central Library

1.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Quinodoz, M;Rodenburg, K;Cvackova, Z;Kaminska, K;De Bruijn, SE;Iglesias-Romero, AB;Boonen, EGM;Ullah, M;Zomer, N;Folcher, M;Bijon, J;Holtes, LK;Tsang, SH;Corradi, Z;Freund, KB;Shliaga, S;Panneman, DM;Hitti-Malin, RJ;Ali, M;Altalbishi, A;Andréasson, S;Ansari, G;Arno, G;Astuti, GDN;Ayuso, C;Ayyagari, R;Banfi, S;Banin, E;Barakat, TS;Barboni, MTS;Bauwens, M;Ben-Yosef, T;Bernard, V;Birch, DG;Biswas, P;Blanco-Kelly, F;Bocquet, B;Boon, CJF;Branham, K;Bremond-Gignac, D;Britten-Jones, AC;Bujakowska, KM;...

D1

NATURE GENETICS

2026.

DOI:10.1038/s41588-025-02451-4 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella, Knézy, Krisztina, Nagy, Zoltán Zsolt, Szabó, Viktória,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

2.

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

Han, JH;Rodenburg, K;Hayman, T;Calzetti, G;Kaminska, K;Quinodoz, M;Marra, M;Wallerich, S;Allon, G;Nagy, ZZ;Knézy, K;Li, YM;Chen, R;Barboni, MTS;Yang, PL;Pennesi, ME;van den Born, LI;Varsányi, B;Szabó, V;Sharon, D;Banin, E;Ben-Yosef, T;Roosing, S;Koenekoop, RK;Rivolta, C

D1

GENETICS IN MEDICINE

2024.

DOI:10.1016/j.gim.2024.101106 (Copy DOI)

Semmelweis University authors: Nagy, Zoltán Zsolt, Knézy, Krisztina, Telles Salgueiro Barboni, Mirella, Varsányi, Balázs, Szabó, Viktória,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

3.

Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia

Barboni, MTS;Széll, N;Sohajda, Z;Fehér, T

Q1

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2024.

DOI:10.1167/iovs.65.8.6 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

4.

Insights into eye genetics and recent advances in ocular gene therapy

Szabó, V;Varsányi, B;Barboni, M;Takács, A;Knézy, K;Molnár, MJ;Nagy, ZZ;György, B;Rivolta, C

Q3

MOLECULAR AND CELLULAR PROBES

2025.

DOI:10.1016/j.mcp.2025.102008 (Copy DOI)

Semmelweis University authors: Szabó, Viktória, Varsányi, Balázs, Telles Salgueiro Barboni, Mirella, Takács, Ágnes Ildikó, Knézy, Krisztina, Molnár, Mária Judit, Nagy, Zoltán Zsolt,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Genomic Medicine and the Institute of Rare Diseases, Department of Ophthalmology,

5.

Fixation stability after surgical treatment of strabismus and biofeedback fixation training in amblyopic eyes

Maneschg, OA;Barboni, MTS;Nagy, ZZ;Németh, J

Q2

BMC OPHTHALMOLOGY

2021.

DOI:10.1186/s12886-021-02020-3 (Copy DOI)

Semmelweis University authors: Maneschg, Otto, Telles Salgueiro Barboni, Mirella, Nagy, Zoltán Zsolt, Németh, János Tibor,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

6.

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

Feher, T;Széll, N;Nagy, I;Maróti, Z;Kalmár, T;Sohajda, Z;Barboni, MTS

Q1

ORPHANET JOURNAL OF RARE DISEASES

2024.

DOI:10.1186/s13023-024-03390-9 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

7.

Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy

Barboni, MTS;Habjan, MS;Pajic, SP;Hawlina, M

Q2

DOCUMENTA OPHTHALMOLOGICA

2024.

DOI:10.1007/s10633-024-09968-9 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

8.

The Association Between Acquired Color Deficiency and PET Imaging of Neurodegeneration in Mild Cognitive Impairment and Alzheimer Disease

Vidal, KSM;Decleva, D;Barboni, MTS;Nagy, BV;de Menezes, PAH;Aher, A;Coutinho, AM;Squarzoni, P;Faria, DD;Duran, FLD;Buchpiguel, CA;Kremers, J;Busatto, G;Ventura, DF

D1

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2022.

DOI:10.1167/iovs.63.5.20 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

9.

The reproducibility of handheld ERGs recorded with skin electrode and natural pupils

Sommer, C;Turgut, F;Saad, A;Becker, MD;Al-Sheikh, M;Davis, CQ;Rahn, U;Barboni, MTS;Debuc, DC;Somfai, GM

Q2

DOCUMENTA OPHTHALMOLOGICA

2025.

DOI:10.1007/s10633-025-10065-8 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella, Somfai, Gábor Márk,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

10.

The Use of the RETeval Portable Electroretinography Device for Low-Cost Screening: A Mini-Review

Saad, A;Turgut, F;Sommer, C;Becker, M;Debuc, D;Barboni, M;Somfai, GM

Q3

KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE

2024.

DOI:10.1055/a-2237-3814 (Copy DOI)

Semmelweis University authors: Turgut, Ferhat, Telles Salgueiro Barboni, Mirella, Somfai, Gábor Márk,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

11.

Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy

Barboni, MTS;Joachimsthaler, A;Roux, MJ;Nagy, ZZ;Ventura, DF;Rendon, A;Kremers, J;Vaillend, C

D1

PROGRESS IN RETINAL AND EYE RESEARCH

2023.

DOI:10.1016/j.preteyeres.2022.101137 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella, Nagy, Zoltán Zsolt,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

12.

Fixation instability, astigmatism, and lack of stereopsis as factors impeding recovery of binocular balance in amblyopia following binocular therapy

Bankó, ÉM;Barboni, MTS;Markó, K;Körtvélyes, J;Németh, J;Nagy, ZZ;Vidnyánszky, Z

D1

SCIENTIFIC REPORTS

2022.

DOI:10.1038/s41598-022-13947-y (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella, Markó, Katalin, Körtvélyes, Judit, Németh, János Tibor, Nagy, Zoltán Zsolt,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

13.

Effects of fixed cutoff filtering on dark- and light-adapted ERG components and the application of variable cutoff filter

Gao, M;Barboni, MTS;Ventura, DF;Nagy, BV

Q2

DOCUMENTA OPHTHALMOLOGICA

2022.

DOI:10.1007/s10633-021-09853-9 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

14.

Altered visual processing in the mdx52 mouse model of Duchenne muscular dystrophy

Barboni, MTS;Liber, AMP;Joachimsthaler, A;Saoudi, A;Goyenvalle, A;Rendon, A;Roger, JE;Ventura, DF;Kremers, J;Vaillend, C

D1

NEUROBIOLOGY OF DISEASE

2021.

DOI:10.1016/j.nbd.2021.105288 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

15.

Oscillatory Potential-based Characterization of the Human Light-adapted Electroretinogram Using Discrete Wavelet Transform

Gao, M;Barboni, MTS;Szabó, V;Nagy, ZZ;Zobor, D;Nagy, BV

Q3

PERIODICA POLYTECHNICA-MECHANICAL ENGINEERING

2024.

DOI:10.3311/PPme.23845 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella, Szabó, Viktória, Nagy, Zoltán Zsolt, Zobor, Annamária Ditta,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology, Faculty of Health Sciences, Department of Clinical Ophthalmology,

16.

Visual Acuity Thresholds in Preterm Newborns: An Experimental Study

Fagundes, RBB;Silva, PYF;Barboni, MTS;da Fonseca, GG;de Almeida, VA;Azevedo, IG;Pereira, SA

Q2

CHILDREN-BASEL

2024.

DOI:10.3390/children11091049 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

17.

Correlations Between Dark-Adapted Rod Threshold Elevations and ERG Response Deficits in Duchenne Muscular Dystrophy

Barboni, MTS;Dias, SL;Silva, LA;Damico, FM;Vidal, KS;Costa, MF;Nagy, BV;Kremers, J;Ventura, DF

Q1

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2021.

DOI:10.1167/iovs.62.4.29 (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

18.

Retinal Function in Patients with Adalimumab Treatment: Long-term Follow-up with Microperimetry

Szepessy, Z;Barboni, MTS;Farkas, A;Nagy, ZZ;Németh, J

Q1

OCULAR IMMUNOLOGY AND INFLAMMATION

2021.

DOI:10.1080/09273948.2019.1672198 (Copy DOI)

Semmelweis University authors: Szepessy, Zsuzsanna, Telles Salgueiro Barboni, Mirella, Farkas, Alexandra, Nagy, Zoltán Zsolt, Németh, János Tibor,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

19.

Biofeedback Fixation Training in the Rehabilitation of Patients with Geographic Atrophy

Vörös, K;Kovács, I;Kézdy, G;Élo, A;Szilágyi, Z;Barboni, M;Récsán, Z;Nagy, ZZ;Ecsedy, M

Q1

LIFE-BASEL

2026.

DOI:10.3390/life16010165 (Copy DOI)

Semmelweis University authors: Vörös, Kristóf Márton, Kovács, Illés, Élő, Ágnes, Szilágyi, Zsuzsa, Telles Salgueiro Barboni, Mirella, Récsán, Zsuzsanna, Nagy, Zoltán Zsolt, Ecsedy, Mónika,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

20.

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort

Takács, A;Varsányi, B;Barboni, M;Vámos, R;Lesch, B;Dobos, D;Clapp, E;Végh, A;Zobor, D;Knézy, K;Nagy, ZZ;Szabó, V

Q2

GENES

2026.

DOI:10.3390/genes17010102 (Copy DOI)

Semmelweis University authors: Takács, Ágnes Ildikó, Varsányi, Balázs, Telles Salgueiro Barboni, Mirella, Vámos, Rita, Lesch, Balázs, Dobos, Dominik, Végh, András, Zobor, Annamária Ditta, Knézy, Krisztina, Nagy, Zoltán Zsolt, Szabó, Viktória,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Ophthalmology,

21.

Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant

Barboni, M;Jávorszky, E;Quinodoz, M;Han, JH;Resch, M;Nagy, ZZ;Rivolta, C;Tory, K;Szabó, V

Q2

DOCUMENTA OPHTHALMOLOGICA

2026.

DOI:10.1007/s10633-026-10084-z (Copy DOI)

Semmelweis University authors: Telles Salgueiro Barboni, Mirella, Jávorszky, Eszter, Resch, Miklós, Nagy, Zoltán Zsolt, Tory, Kálmán, Szabó, Viktória,

Semmelweis University departments: Semmelweis University, Faculty of Medicine, Department of Pediatrics, Department of Ophthalmology,

22.

Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia

Zobor, D;Knézy, K;Besztercei, B;Szigeti, A;Csidey, M;Kormányos, K;Élo, A;Náray, A;Szabo, D;Nagy, ZZ;Jávorszky, E;Corton, M;Maka, E;Tory, K;Barboni, M;Szentmáry, N

Q1

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2025.

DOI:10.1167/iovs.66.14.36 (Copy DOI)