Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Biol. 2006;358:1390-404. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16584746.
Assessing Differential Expression Measurements by Highly Parallel Pyrosequencing and DNA Microarrays: A Comparative Study. Omics : a journal of integrative biology. 2013. doi:10.1089/omi.2011.0065.
Whole Exome Sequencing Reveals ZNF408 as a New Gene Associated With Autosomal Recessive Retinitis Pigmentosa with Vitreal Alterations. Human molecular genetics. 2015;24:4037-4048. doi:10.1093/hmg/ddv140.
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.
Ontology-driven approaches to analyzing data in functional genomics. Methods Mol Biol. 2006;316:67-86. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16671401.
. N-glycosylation efficiency is determined by the distance to the C-terminus and the amino acid preceding an Asn-Ser-Thr sequon. Protein science : a publication of the Protein Society. 2011;20:179-86.
. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.
Structure determination of genomic domains by satisfaction of spatial restraints. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 2011;19:25-35.
. The three-dimensional folding of the α-globin gene domain reveals formation of chromatin globules. Nature structural & molecular biology. 2011;18:107-14.
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene. Cells. 2024;13(6). doi:10.3390/cells13060524.
DNA methylation epigenotypes in breast cancer molecular subtypes. Breast Cancer Res. 2010;12(5):R77. doi:10.1186/bcr2721.
Interoperability with Moby 1.0--it's better than sharing your toothbrush!. Brief Bioinform. 2008;9(3):220-31. doi:10.1093/bib/bbn003.
Statistical methods for analysis of high-throughput RNA interference screens. Nature Methods. 2009;6:569 - 575. Available at: http://dx.doi.org/10.1038/nmeth.1351.
Case report: Analysis of phage therapy failure in a patient with a Pseudomonas aeruginosa prosthetic vascular graft infection. Front Med (Lausanne). 2023;10:1199657. doi:10.3389/fmed.2023.1199657.
. CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources. Nucleic acids research. 2012;40:W609-14. doi:10.1093/nar/gks575.
Inferring the regulatory network behind a gene expression experiment. Nucleic Acids Res. 2012;40(Web Server issue):W168-72. doi:10.1093/nar/gks573.
. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Platform to study intracellular polystyrene nanoplastic pollution and clinical outcomes. Stem Cells. 2020;38(10):1321-1325. doi:10.1002/stem.3244.
Biological processes, properties and molecular wiring diagrams of candidate low-penetrance breast cancer susceptibility genes. BMC Med Genomics. 2008;1:62. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19094230.
Exploring the link between germline and somatic genetic alterations in breast carcinogenesis. PLoS One. 2010;5(11):e14078. doi:10.1371/journal.pone.0014078.
Large-scale Gene Ontology analysis of plant transcriptome-derived sequences retrieved by AFLP technology. BMC Genomics. 2008;9:347. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18652646.
. An anaerobic mitochondrion that produces hydrogen. Nature. 2005;434:74-9. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15744302.
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.
Immunotherapy in nonsmall-cell lung cancer: current status and future prospects for liquid biopsy. Cancer Immunol Immunother. 2021;70(5):1177-1188. doi:10.1007/s00262-020-02752-z.
Membrane transporters and carbon metabolism implicated in chloride homeostasis differentiate salt stress responses in tolerant and sensitive Citrus rootstocks. Funct Integr Genomics. 2009. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19190944.