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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 2 |
2022 | 2 |
2023 | 2 |
2024 | 0 |
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6 results
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Page 1
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
NPJ Genom Med. 2022 Jul 14;7(1):41. doi: 10.1038/s41525-022-00311-2.
NPJ Genom Med. 2022.
PMID: 35835773
Free PMC article.
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I, Blanco-Kelly F, Sanchez-Navarro I, Lorda-Sanchez I, Tahsin-Swafiri S, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Lopez-Rodriguez R, Rodriguez de Alba M, Iancu IF, Romero R, Quinodoz M, Hakonarson H, Garcia-Sandova B, Minguez P, Corton M, Rivolta C, Ayuso C.
Perea-Romero I, et al.
Hum Genet. 2021 Dec;140(12):1665-1678. doi: 10.1007/s00439-021-02343-7. Epub 2021 Aug 26.
Hum Genet. 2021.
PMID: 34448047
Free PMC article.
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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF, Avila-Fernandez A, Arteche A, Trujillo-Tiebas MJ, Riveiro-Alvarez R, Almoguera B, Martin-Merida I, Del Pozo-Valero M, Perea-Romero I, Corton M, Minguez P, Ayuso C.
Iancu IF, et al.
NPJ Genom Med. 2021 Feb 23;6(1):18. doi: 10.1038/s41525-021-00182-z.
NPJ Genom Med. 2021.
PMID: 33623043
Free PMC article.
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Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
de la Fuente L, Del Pozo-Valero M, Perea-Romero I, Blanco-Kelly F, Fernández-Caballero L, Cortón M, Ayuso C, Mínguez P.
de la Fuente L, et al.
Int J Mol Sci. 2023 Jan 14;24(2):1661. doi: 10.3390/ijms24021661.
Int J Mol Sci. 2023.
PMID: 36675175
Free PMC article.
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VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Núñez-Moreno G, Tamayo A, Ruiz-Sánchez C, Cortón M, Mínguez P.
Núñez-Moreno G, et al.
Hum Genet. 2023 Apr;142(4):495-506. doi: 10.1007/s00439-023-02539-z. Epub 2023 Mar 7.
Hum Genet. 2023.
PMID: 36881176
Free PMC article.
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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF, Perea-Romero I, Núñez-Moreno G, de la Fuente L, Romero R, Ávila-Fernandez A, Trujillo-Tiebas MJ, Riveiro-Álvarez R, Almoguera B, Martín-Mérida I, Del Pozo-Valero M, Damián-Verde A, Cortón M, Ayuso C, Minguez P.
Iancu IF, et al.
Int J Mol Sci. 2022 Jul 29;23(15):8431. doi: 10.3390/ijms23158431.
Int J Mol Sci. 2022.
PMID: 35955564
Free PMC article.
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