Research output per year
Research output per year
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Dive into the research topics where Maria Cristina Ribeirete Moreira dos Santos is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Kaminska, K., Cancellieri, F., Quinodoz, M., Moye, A. R., Bauwens, M., Lin, S., Janeschitz-Kriegl, L., Hayman, T., Barberán-Martínez, P., Schlaeger, R., Van den Broeck, F., Ávila Fernández, A., Fernández-Caballero, L., Perea-Romero, I., García-García, G., Salom, D., Mazzola, P., Zuleger, T., Poths, K., Haack, T. B., & 36 others, Apr 2025, In: American journal of human genetics. 112, 4, p. 808 - 828Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)12 Downloads (Pure) -
Biallelic mutations in COQ8B (ADCK4) lead to non-syndromic retinitis pigmentosa in multiple families
Romero, ABI., Kaminska, K., Santos, C., Lin, S., Quinodoz, M., Folcher, M., Calado, JT., Arno, G., Webster, AR., Sousa, AB., Santos, LC. & Rivolta, C., Jun 2024, In: Investigative ophthalmology & visual science. 65, 7, 3 p.Research output: Contribution to journal › Meeting Abstract › peer-review
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Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
Iglesias-Romero, A. B., Kaminska, K., Quinodoz, M., Folcher, M., Lin, S., Arno, G., Calado, J., Webster, A. R., Moulin, A., Sousa, A. B., Coutinho-Santos, L., Santos, C. & Rivolta, C., 3 Oct 2024, In: American journal of human genetics. 111, 10, p. 2299 - 2306Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Citations (Scopus)31 Downloads (Pure) -
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
Quinodoz, M., Kaminska, K., Cancellieri, F., Han, J. H., Peter, V. G., Celik, E., Janeschitz-Kriegl, L., Schärer, N., Hauenstein, D., György, B., Calzetti, G., Hahaut, V., Custódio, S., Sousa, A. C., Wada, Y., Murakami, Y., Fernández, A. A., Hernández, C. R., Minguez, P., Ayuso, C., & 7 others, 4 Apr 2024, In: American journal of human genetics. 111, 4, p. 701-713 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Citations (Scopus)58 Downloads (Pure) -
Genetic profile of syndromic retinitis pigmentosa in Portugal
Cortinhal, T., Santos, C., Vaz-Pereira, S., Marta, A., Duarte, L., Miranda, V., Costa, J., Sousa, A. B., Peter, V. G., Kaminska, K., Rivolta, C., Carvalho, A. L., Saraiva, J., Soares, C. A., Silva, R., Murta, J., Santos, L. C. & Marques, J. P., Jun 2024, In: Graefe's Archive for Clinical and Experimental Ophthalmology. 262, 6, p. 1883 - 1897Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Citations (Scopus)77 Downloads (Pure)