Fundación Pública Galega de Medicina Xenómica

2015

1. A Genetically Vulnerable Myocardium May Predispose to Myocarditis

   Journal of the American College of Cardiology

2. A SNaPshot of next generation sequencing for forensic SNP analysis

   Forensic Science International: Genetics, Vol. 14, pp. 50-60

3. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

   Gut, Vol. 64, Núm. 1, pp. 111-120

4. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

   PLoS ONE, Vol. 10, Núm. 4

5. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

   American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1315-1322

6. Ag2 and Ag3 Clusters: Synthesis, Characterization, and Interaction with DNA

   Angewandte Chemie - International Edition, Vol. 54, Núm. 26, pp. 7612-7616

7. An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

   Clinica Chimica Acta, Vol. 445, pp. 34-40

8. Analysis of IGF(CA)19 and IGFBP3-202A/C gene polymorphisms in patients with acromegaly: Association with clinical presentation and response to treatments

   European Journal of Endocrinology, Vol. 172, Núm. 2, pp. 115-122

9. Association between SNPs of metalloproteinases and prostaglandin f2α receptor genes and latanoprost response in open-angle glaucoma

   Ophthalmology, Vol. 122, Núm. 5, pp. 1040-1048.e4

10. Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: Comparisons and contrasts

    International Journal of Developmental Disabilities, Vol. 61, Núm. 1, pp. 49-55

11. BRCA1 Circos: A visualisation resource for functional analysis of missense variants

    Journal of Medical Genetics, Vol. 52, Núm. 4, pp. 224-230

12. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

    Familial Cancer, Vol. 14, Núm. 4, pp. 505-513

13. BigBWA: Approaching the Burrows-Wheeler aligner to Big Data technologies

    Bioinformatics, Vol. 31, Núm. 24, pp. 4003-4005

14. Brain activation of the defensive and appetitive survival systems in obsessive compulsive disorder

    Brain Imaging and Behavior, Vol. 9, Núm. 2, pp. 255-263

15. Broad-based molecular autopsy: A potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

    Archives of Disease in Childhood, Vol. 100, Núm. 10, pp. 952-956

16. Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la region de los síndromes de microdeleción/microduplicación 3q29

    Revista de Neurologia, Vol. 61, Núm. 6, pp. 255-260

17. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

    Cerebellum

18. Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

    Heart Rhythm, Vol. 12, Núm. 7, pp. 1636-1643

19. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1369-1373

20. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

    Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303