o    Zarrabeitia MT, Valero C, Martín-Escudero JC, Olmos JM, Bolado-Carrancio A, de Sande-Nacarino EL, Rodríguez-Rey JC, Sainz J, Riancho JA. Association study of sirtuin 1 polymorphisms with bone mineral density and body mass index. Arch Med Res. 2012 Jul;43(5):363-8. Epub 2012 Jul 21.

o    Sainz J, Mata I, Barrera J, Perez-Iglesias R, Varela I, Arranz MJ, Rodriguez MC, Crespo-Facorro B. Inflammatory and immune response genes have significantly altered expression in schizophrenia. Mol Psychiatry. 2012 Nov 20. [Epub ahead of print]

o    Delgado-Calle J, Fernández AF, Sainz J, Zarrabeitia MT, Sañudo C, García-Renedo R, Pérez-Núñez MI, García-Ibarbia C, Fraga MF, Riancho JA. Genome-wide profiling of bone reveals differentially methylated regions in osteoporosis and osteoarthritis.

Arthritis Rheum. 2013 Jan;65(1):197-205.

 o    G Gudmundsson, SE Matthiasson, H Arason, H Johannsson, F Runarsson, H Bjarnason, K Helgadottir, S Thorisdottir, G Ingadottir, K Lindpaintner, J Sainz, V Gudnason, ML Frigge, A Kong, JR Gulcher, K Stefansson. (2002). Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31. American Journal of Human Genetics 70:586-92.

o   S Gretarsdottir, S Sveinbjornsdottir, HH Jonsson, F Jakobsson, E Einarsdottir, U Agnarsson, D Shkolny, G Einarsson, HM Gudjonsdottir, Valdimarsson EM, OB Einarsson,  G Thorgeirsson, R Hadzic, S Jonsdottir, ST Reynisdottir, SM Bjarnadottir, T Gudmundsdottir, GJ Gudlaugsdottir, R Gill, K Lindpaintner, J Sainz, HH Hannesson, GT Sigurdsson, ML Frigge, A Kong, V Gudnason, K Stefansson, JR Gulcher (2002). Localization of a susceptibility gene for common forms of stroke to 5q12. American Journal of Human Genetics 70:593-603

o   A Kong, D Gudbjartsson, J Sainz, G Jonsdottir, S Gudjonsson, B Richardsson, S Sigurdardottir, B Hallbeck, G Masson, A Shlien, S Palsson, ML Frigge, TE Thorgeirsson, JR Gulcher, Kstefansson (2002). A High Resolution Recombination Map of the Human Genome. Nature Genetics 31: 241-7.

o    H Stefansson, E Sigurdsson, V Steinthorsdottir, S Bjornsdottir, T Sigmundsson, S Ghosh, J Brynjolfsson, S Gunnarsdottir, O Ivarsson, TT Chou, O Hjaltason, B Birgisdottir, H Jonsson, VG Gudnadottir, E Gudmundsdottir, A Bjornsson, B Ingvarsson, A Ingason, S Sigfusson, H Hardardottir, RP Harvey, D Lai, M Zhou, D Brunner, V Mutel, G Acuňa, G Lemke, J Sainz, G Johannesson, T Andresson, D Gudbjartsson, A Manolescu, ML Frigge, ME Gurney, A Kong, JR Gulcher, H Petursson, and K Stefansson (2002). Neuregulin 1 and Susceptibility to Schizophrenia. American Journal of Human Genetics 71:877-892

o   A Hicks, H Peturson, T Jonsson, H Stefansson, J Sainz, M L. Frigge, A Kong, JR. Gulcher, K Stefansson (2002). A Susceptibility Gene  for Late-onset Idiopatic Parkinson Disease Mapped on Chromosome 1. Annals of Neurology 52:549-555.

o   A Jonasdottir, T Thorlacius, R Fossdal, K Benediktsson, J Benedikz, HH Jonsson, J Sainz, H Einarsdottir, S Sigurdardottir, G Kristjansdottir, S Sawcer, A Compston, K Stefansson, J Gulcher (2003 ) A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers. Journal of Neuroimmunology. 143:88-92. 

o   A Helgadottir, A Manolescu, G Thorleifsson, S Gretarsdottir, H Jonsdottir, U Thorsteinsdottir, NJ Samani, G Gudmundsson, SF Grant, G Thorgeirsson, S Sveinbjornsdottir, EM Valdimarsson, SE Matthiasson, H Johannsson, O Gudmundsdottir, ME Gurney , J Sainz, M Thorhallsdottir, M Andresdottir, ML Frigge, EJ Topol, A Kong, V Gudnason, H Hakonarson, JR Gulcher, K Stefansson (2004). The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nature Genetics. 36:233-9.

o   H Stefansson, A Helgason, G Thorleifsson, V Steinthorsdottir, G Masson, J Barnard, A Baker, A Jonasdottir, A Ingason, VG Gudnadottir, N Desnica, A Hicks, A Gylfason, DF Gudbjartsson, GM Jonsdottir, J Sainz, K Agnarsson, B Birgisdottir, S Ghosh, A Olafsdottir, JB Cazier, K Kristjansson, ML Frigge, TE Thorgeirsson, JR Gulcher, A Kong, K Stefansson (2005). A common inversion under selection in Europeans. Nature Genetics. 37:129-37.

o   J Sainz, P Rovensky, S Gudjonsson, G Thorleifsson, K Stefansson, JR Gulcher. (2006) Segmental duplication density decrease with distance to human-mouse breaks of synteny European Journal of Human Genetics 14:216-21.

o   A Helgadottir, A Manolescu, A Helgason, G Thorleifsson, U Thorsteinsdottir, D Gudbjartsson. S Grant, J Sainz, SJ O’Brien, SE Matthiasson, AI Levey, JL Abramson, M Reilly, V Vaccarino, M Wolfe, V Gudnason, AA Quyyumi, EJ Topol, DJ Rader, G Thorgeirsson, JR Gulcher, H Hakonarson, A Kong, K StefanssoN (2006) A variant of the gene encoding leukotriene A4 hydrolase confers ethnic specific risk of myocardial infarction. Nature Genetics  38:68-74.

o   S F.A. Grant, G Thorleifsson, I Reynisdottir, R Benediktsson, A Manolescu, J Sainz, A Helgason, H Stefansson, V Emilsson, A Helgadottir, U Styrkarsdottir, G. B Walters, E Palsdottir, T Jonsdottir, T Gudmundsdottir, A Gylfason, J Saemundsdottir, M P. Reilly, D J. Rader, Y Bagger, C Christiansen, V Gudnason, G Sigurdsson, U Thorsteinsdottir, J R. Gulcher, A Kong, K Stefansson (2006) Variant of the transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genetics  38:320-3.

o   Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Cazier JB, Sainz J, Jakobsdottir M, Kostic J, Magnusdottir DN, Ghosh S, Agnarsson K, Birgisdottir B, Le Roux L, Olafsdottir A, Blondal T, Andresdottir M, Gretarsdottir OS, Bergthorsson JT, Gudbjartsson D, Gylfason A, Thorleifsson G, Manolescu A, Kristjansson K, Geirsson G, Isaksson H, Douglas J, Johansson JE, Balter K, Wiklund F, Montie JE, Yu X, Suarez BK, Ober C, Cooney KA, Gronberg H, Catalona WJ, Einarsson GV, Barkardottir RB, Gulcher JR, Kong A, Thorsteinsdottir U, Stefansson K (2006) A common variant associated with prostate cancer in European and African populations. Nature Genetics 38:652-8. 

o  Deardorff MA, Sainz J, Grant SF (2011). Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion. BMC Med. 3;9:13. Sanchez-Juan P, Bishop MT, Aulchenko YS, Brandel JP, Rivadeneira F, Struchalin M, Lambert JC, Amouyel P, Combarros O, Sainz J, Carracedo A, Uitterlinden AG, Hofman A, Zerr I, Kretzschmar HA, Laplanche JL, Knight RS, Will RG, van Duijn CM. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. Neurobiol Aging. 2011 Nov 30.

o  Riancho JA, Liu Y, Sainz J, García-Pérez MA, Olmos JM, Bolado-Carrancio A, Valero C, Pérez-López J, Cano A, Yang T, Sañudo C, Deng HW, Rodríguez-Rey JC. Nuclear receptor NR5A2 and bone: gene expression and association with bone mineral density. Eur J Endocrinol. 2012 Jan;166(1):69-75.

o  Riancho JA, Vázquez L, García-Pérez MA, Sainz J, Olmos JM, Hernández JL, Pérez-López J, Amado JA, Zarrabeitia MT, Cano A, Rodríguez-Rey JC. Association of ACACB polymorphisms with obesity and diabetes. Mol Genet Metab. 2011 Dec;104(4):670-6.

o  Sainz J (2012). A Methodology to Identify and Prioritize Gene Candidates for Human Disease. Front. Gene. 3:133. doi: 10.3389/fgene.2012.00133.