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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Submitted by iguillen on Tue, 06/11/2019 - 10:26
Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Submitted by iguillen on Tue, 06/11/2019 - 10:22
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, et al. Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Gene. 2015;571(1):52-7. doi:10.1016/j.gene.2015.06.039.

The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.

Submitted by iguillen on Tue, 06/11/2019 - 10:18
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Submitted by iguillen on Tue, 06/11/2019 - 10:17
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.

Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer.

Submitted by iguillen on Tue, 06/11/2019 - 10:08
Puchades-Carrasco L, Jantus-Lewintre E, Pérez-Rambla C, et al. Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer. Oncotarget. 2016;7(11):12904-16. doi:10.18632/oncotarget.7354.