Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.

Medori MC, Macchia A, Maltese PE, Miertuš J, Cristofoli F, Gordani O, Dhamo X, Kalluci E, Vešelényiová D, Miertuš S, Luptáková ID, Pospíchal J, Ahmed R, Bernini A, Placidi G, Falsini B, Chiurazzi P, Rosentraub D, Bertelli M

Open source

DOI
10.18502/jovr.v21.18236
Published
2026
Container
Journal of ophthalmic & vision research
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.18502/jovr.v21.18236,
  title = {Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.},
  author = {Medori MC and Macchia A and Maltese PE and Miertuš J and Cristofoli F and Gordani O and Dhamo X and Kalluci E and Vešelényiová D and Miertuš S and Luptáková ID and Pospíchal J and Ahmed R and Bernini A and Placidi G and Falsini B and Chiurazzi P and Rosentraub D and Bertelli M},
  year = {2026},
  journal = {Journal of ophthalmic \& vision research},
  doi = {10.18502/jovr.v21.18236},
  url = {https://doi.org/10.18502/jovr.v21.18236}
}

RIS

TY  - JOUR
TI  - Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.
AU  - Medori MC
AU  - Macchia A
AU  - Maltese PE
AU  - Miertuš J
AU  - Cristofoli F
AU  - Gordani O
AU  - Dhamo X
AU  - Kalluci E
AU  - Vešelényiová D
AU  - Miertuš S
AU  - Luptáková ID
AU  - Pospíchal J
AU  - Ahmed R
AU  - Bernini A
AU  - Placidi G
AU  - Falsini B
AU  - Chiurazzi P
AU  - Rosentraub D
AU  - Bertelli M
PY  - 2026
JO  - Journal of ophthalmic & vision research
DO  - 10.18502/jovr.v21.18236
UR  - https://doi.org/10.18502/jovr.v21.18236
ER  - 

APA

MC, M., A, M., PE, M., J, M., F, C., O, G., X, D., E, K., D, V., S, M., ID, L., J, P., R, A., A, B., G, P., B, F., P, C., D, R., & M, B. (2026). Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.. Journal of ophthalmic & vision research. https://doi.org/10.18502/jovr.v21.18236

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