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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.
Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2020;21(3):456-466. doi:10.1016/S1470-2045(19)30826-5.
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses. Br J Dermatol. 2019;181(3):512-522. doi:10.1111/bjd.17698.
Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2019;20(1):134-144. doi:10.1016/S1470-2045(18)30676-4.
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
LRH-1 agonism favours an immune-islet dialogue which protects against diabetes mellitus. Nat Commun. 2018;9(1):1488. doi:10.1038/s41467-018-03943-0.
The modular network structure of the mutational landscape of Acute Myeloid Leukemia. PLoS One. 2018;13(10):e0202926. doi:10.1371/journal.pone.0202926.
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 2017;376(18):1794-1795. doi:10.1056/NEJMc1612804.
Roca-Ayats-2017NEJM - GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.pdf (214.03 KB)

Graph-theoretical comparison of normal and tumor networks in identifying BRCA genes. BMC Syst Biol. 2017;11(1):110. doi:10.1186/s12918-017-0495-0.
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Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:35370. doi:10.1038/srep35370.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.
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.
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.
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.
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Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction. PLoS One. 2014;9(11):e113067. doi:10.1371/journal.pone.0113067.
Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia. Fungal Genet Biol. 2014;65:69-80. doi:10.1016/j.fgb.2014.02.002.
Differential gene-expression analysis defines a molecular pattern related to olive pollen allergy. J Biol Regul Homeost Agents. 2013;27(2):337-50.