Publicaciones
1. Gratacòs, M. et al. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. Am. J. Med. Genet. B Neuropsychiatr. Genet 150B, 808-816(2009).
2. Castellano, S. et al. Low exchangeability of selenocysteine, the 21st amino acid, in vertebrate proteins. Mol. Biol. Evol 26, 2031-2040(2009).
3. Sikora, M. et al. A variant in the gene FUT9 is associated with susceptibility to placental malaria infection. Hum. Mol. Genet 18, 3136-3144(2009).
4. Stefansson, H. et al. Common variants conferring risk of schizophrenia. Nature 460, 744-747(2009).
5. Comabella, M. et al. Genome-wide scan of 500,000 single-nucleotide polymorphisms among responders and nonresponders to interferon beta therapy in multiple sclerosis. Arch. Neurol 66, 972-978(2009).
6. Domingues-Montanari, S. et al. KCNK17 genetic variants in ischemic stroke. Atherosclerosis (2009).doi:10.1016/j.atherosclerosis.2009.07.023
7. Moreno-Estrada, A. et al. Interrogating eleven fast-evolving genes for signatures of recent positive selection in worldwide human populations. Mol. Biol. Evol (2009).doi:10.1093/molbev/msp134
8. Cuenca-León, E. et al. Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred. Neurogenetics 10, 191-198(2009).
9. Casals, F. et al. Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function. Glycobiology 19, 583-591(2009).
10. Baca-Garcia, E. et al. Nucleotide variation in central nervous system genes among male suicide attempters. Am. J. Med. Genet. B Neuropsychiatr. Genet (2009).doi:10.1002/ajmg.b.30975
11. Caronia, D. et al. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. Pharmacogenomics J (2009).doi:10.1038/tpj.2009.19
12. de Cid, R. et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat. Genet 41, 211-215(2009).
13. Vega, A. et al. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. Gynecol. Oncol 112, 210-214(2009).
14. Ribasés, M. et al. Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol. Psychiatry 14, 71-85(2009).
15. Bosch, E. et al. Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD. BMC Genomics 10, 338(2009).
16. Amigo, J. et al. Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes. BMC Bioinformatics 10 Suppl 3, S5(2009).
17. Enjuanes, A. et al. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. Cancer Res 68, 10178-10186(2008).
18. Gardner, M., Bertranpetit, J. & Comas, D. Worldwide genetic variation in dopamine and serotonin pathway genes: implications for association studies. Am. J. Med. Genet. B Neuropsychiatr. Genet 147B, 1070-1075(2008).
19. Picó, F.X. et al. Natural genetic variation of Arabidopsis thaliana is geographically structured in the Iberian peninsula. Genetics 180, 1009-1021(2008).
20. Amigo, J. et al. The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project. Int. J. Legal Med 122, 435-440(2008).
21. Morcillo-Suarez, C. et al. SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data. Bioinformatics 24, 1643-1644(2008).
22. Ferrer-Admetlla, A. et al. Balancing selection is the main force shaping the evolution of innate immunity genes. J. Immunol 181, 1315-1322(2008).
23. Ribasés, M. et al. Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder. Biol. Psychiatry 63, 935-945(2008).
24. Milne, R.L. et al. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin. Cancer Res 14, 2861-2869(2008).
25. Gratacòs, M. et al. A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders. Pharmacogenomics J 8, 101-112(2008).
26. Alonso, P. et al. Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder. Biol. Psychiatry 63, 619-628(2008).
27. Vilella, E. et al. Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction. J Psychiatr Res 42, 278-288(2008).
28. Moreno-Estrada, A. et al. Signatures of selection in the human olfactory receptor OR5I1 gene. Mol. Biol. Evol 25, 144-154(2008).
29. Armengol, L., Rabionet, R. & Estivill, X. The emerging role of structural variations in common disorders: initial findings and discovery challenges. Cytogenet. Genome Res 123, 108-117(2008).
30. Amigo, J. et al. SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access. BMC Bioinformatics 9, 428(2008).
31. Phillips, C. et al. Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs. Forensic Sci Int Genet 1, 273-280(2007).
32. Mercader, J.M. et al. Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia. Genes Brain Behav 6, 706-716(2007).
33. Estivill, X. & Armengol, L. Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet 3, 1787-1799(2007).
34. Gardner, M. et al. Extreme individual marker F(ST )values do not imply population-specific selection in humans: the NRG1 example. Hum. Genet 121, 759-762(2007).
35. Gratacòs, M. et al. Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia. Biol. Psychiatry 61, 911-922(2007).
36. González, J.R. et al. SNPassoc: an R package to perform whole genome association studies. Bioinformatics 23, 644-645(2007).
37. Cox, A. et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat. Genet 39, 352-358(2007).
38. Phillips, C. Online resources for SNP analysis: a review and route map. Mol. Biotechnol 35, 65-97(2007).
39. Mercader, J.M. et al. Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients. Neuropsychobiology 56, 185-190(2007).
40. Lijavetzky, D. et al. High throughput SNP discovery and genotyping in grapevine (Vitis vinifera L.) by combining a re-sequencing approach and SNPlex technology. BMC Genomics 8, 424(2007).
41. Gonzalez-Neira, A. et al. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies. BMC Genomics 8, 299(2007).
42. Ballana, E. et al. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. BMC Genomics 8, 14(2007).
43. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454(2006).
44. González, J.R. et al. A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. Hum. Mutat 27, 1135-1142(2006).
45. Milne, R.L. et al. ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res 66, 9420-9427(2006).
46. Barroso, E. et al. FANCD2 associated with sporadic breast cancer risk. Carcinogenesis 27, 1930-1937(2006).
47. Ribas, G. et al. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum. Genet 118, 669-679(2006).
48. Brión, M. et al. Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages. Electrophoresis 26, 4411-4420(2005).
49. Salas, A. et al. A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem. Biophys. Res. Commun 335, 891-899(2005).
50. Marquès-Bonet, T. et al. Association Cluster Detector: a tool for heuristic detection of significance clusters in whole-genome scans. Bioinformatics 21 Suppl 2, ii180-181(2005).
51. Ribases, M. et al. Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, harm avoidance and minimum body mass index. Mol. Psychiatry 10, 851-860(2005).
52. Ribasés, M. et al. Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations. Eur. J. Hum. Genet 13, 428-434(2005).
53. Bayés, M. et al. [Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. Rev Neurol 40 Suppl 1, S187-190(2005).
