Bio

Berta Almoguera

Berta joined CAG in June 2011. She is a Research Scientist, heavily-involved in the NHGRI-funded Electronic Medical Records and Genomics (eMERGE) project. Her research focuses on the identification of the genetic underpinnings of both common and rare disorders with a special emphasis on the genetic factors affecting individual responses to medications commonly prescribed in children.

Berta received her B.Sc in Pharmacy at the Universidad Complutense in Madrid. After that, she engaged in a 4-year residence program in Clinical Chemistry and Laboratory Medicine in the Hospital Universitario Puerta de Hierro (Madrid). After completing the program, she was awarded with a Rio Hortega Research Training Grant from the Spanish Ministry of Science that supported her research focused on the pharmacogenetics of the antipsychotic treatment in schizophrenia. She received her PhD in Genetics and Cellular Biology from the Universidad Autonoma in Madrid

Publications

Publications

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.
PLoS One. 2015;10(7):e0133624. doi: 10.1371/journal.pone.0133624.



Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C.
Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.



Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems.
Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, et al.
Clin Pharmacol Ther. 2014 Oct;96(4):482-9. doi: 10.1038/clpt.2014.137. Epub 2014 Jun 24.



Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.
Almoguera B, Vazquez L, Connolly JJ, Bradfield J, Sleiman P, Keating B, Hakonarson H.
Front Genet. 2014;5:96. doi: 10.3389/fgene.2014.00096.



Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.
Sleiman P, Bradfield J, Mentch F, Almoguera B, Connolly J, Hakonarson H.
Front Genet. 2014;5:105. doi: 10.3389/fgene.2014.00105.



Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.
Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.
Front Genet. 2014;5:51. doi: 10.3389/fgene.2014.00051. Review.



Transplantation genetics: current status and prospects.
Almoguera B, Shaked A, Keating BJ.
Am J Transplant. 2014 Apr;14(4):764-78. doi: 10.1111/ajt.12653. Epub 2014 Mar 11. Review.



Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.
Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Gaunt TR, Gho JM, Gieger C, Goel A, et al.
Am J Hum Genet. 2014 Mar 6;94(3):349-60. doi: 10.1016/j.ajhg.2013.12.016. Epub 2014 Feb 20.



Mendelian randomization of blood lipids for coronary heart disease.
Holmes MV, Asselbergs FW, Palmer TM, Drenos F, Lanktree MB, Nelson CP, Dale CE, Padmanabhan S, Finan C, Swerdlow DI, Tragante V, van Iperen EP, Sivapalaratnam S, Shah S, Elbers CC, Shah T, Engmann J, Giambartolomei C, White J, Zabaneh D, Sofat R, McLachlan S; et al.
Eur Heart J. 2015 Mar 1;36(9):539-50. doi: 10.1093/eurheartj/eht571. Epub 2014 Jan 27.



Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.
Holmes MV, Lange LA, Palmer T, Lanktree MB, North KE, Almoguera B, Buxbaum S, Chandrupatla HR, Elbers CC, Guo Y, Hoogeveen RC, Li J, Li YR, Swerdlow DI, Cushman M, Price TS, Curtis SP, Fornage M, Hakonarson H, Patel SR, Redline S, Siscovick DS, et al.
Am J Hum Genet. 2014 Feb 6;94(2):198-208. doi: 10.1016/j.ajhg.2013.12.014. Epub 2014 Jan 23. Erratum in: Am J Hum Genet. 2014 Feb 6;94(2):312.



Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FP, Carracedo A, Ayuso C.
Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.



IBC CARe microarray allelic population prevalences in an American Indian population.
Best LG, Anderson CM, Saxena R, Almoguera B, Chandrupatla H, Martin C, Falcon G, Keplin K, Pearson N, Keating BJ.
PLoS One. 2013;8(9):e75080. doi: 10.1371/journal.pone.0075080.



CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment.
Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Vaquero-Lorenzo C, Fernandez-Piqueras J, Llerena A, Abad-Santos F, Baca-García E, Dal-Ré R, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia.
Pharmacogenet Genomics. 2013 Nov;23(11):627-30. doi: 10.1097/FPC.0b013e3283659a94.



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YD, Gaunt TR, Gong Y, Hopewell JC, Johnson T, Kleber ME, Langaee TY, Li M, Li YR, et al.
Am J Hum Genet. 2012 Nov 2;91(5):823-38. doi: 10.1016/j.ajhg.2012.08.032. Epub 2012 Oct 11.



Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population.
Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Vaquero-Lorenzo C, Fernandez-Piqueras J, Llerena A, Abad-Santos F, Baca-García E, Dal-Ré R, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia.
Pharmacogenomics J. 2013 Apr;13(2):197-204. doi: 10.1038/tpj.2011.57. Epub 2012 Jan 3.



Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients.
Gallardo ME, García-Pavía P, Chamorro R, Vázquez ME, Gómez-Bueno M, Millán I, Almoguera B, Domingo V, Segovia J, Vilches C, Alonso-Pulpón L, Garesse R, Bornstein B.
Eur Heart J. 2012 Feb;33(3):346-53. doi: 10.1093/eurheartj/ehr280. Epub 2011 Aug 6.



ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.
Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Lopez-Rodriguez R, Fernandez-Navarro P, Baca-García E, Fernandez-Piqueras J, Dal-Ré R, Abad-Santos F, Llerena A, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia.
BMC Med Genet. 2011 Jun 9;12:81. doi: 10.1186/1471-2350-12-81.



Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C.
Mol Vis. 2011 Apr 29;17:1103-9.



Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.
Vallespin E, Avila-Fernandez A, Almoguera B, Velez-Monsalve C, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C.
Hum Genet. 2010 Apr;127(4):487. No abstract available.



Evaluating a newly developed pharmacogenetic array: screening in a Spanish population.
Almoguera B, Riveiro-Alvarez R, Gomez-Dominguez B, Lopez-Rodriguez R, Dorado P, Vaquero-Lorenzo C, Dal-Ré R, Fernandez-Piqueras J, Llerena A, Abad-Santos F, Ayuso C.
Pharmacogenomics. 2010 Nov;11(11):1619-25. doi: 10.2217/pgs.10.131.



Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.
Vallespin E, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas MJ, Ayuso C.
Hum Genet. 2010 Jan;127(1):119. No abstract available.



Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).
Vallespin E, Avila-Fernandez A, Almoguera B, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C.
Hum Genet. 2010 Jan;127(1):118. No abstract available.