Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems
Rasmussen-Torvik, L J, Stallings, S C, Gordon, A S, Almoguera, B, Basford, M A, Bielinski, S J, Brautbar, A, Brilliant, M H, Carrell, D S, Connolly, J J, Crosslin, D R, Doheny, K F, Gallego, C J, Gottesman, O, Kim, D S, Leppig, K A, Li, R, Lin, S, Manzi, S, Mejia, A R, Pacheco, J A, Pan, V, Pathak, J, Perry, C L, Peterson, J F, Prows, C A, Ralston, J, Rasmussen, L V, Ritchie, M D, Sadhasivam, S, Scott, S A, Smith, M, Vega, A, Vinks, A A, Volpi, S, Wolf, W A, Bottinger, E, Chisholm, R L, Chute, C G, Haines, J L, Harley, J B, Keating, B, Holm, I A, Kullo, I J, Jarvik, G P, Larson, E B, Manolio, T, McCarty, C A, Nickerson, D A, Scherer, S E, Williams, M S, Roden, D M, Denny, J C
Published in Clinical pharmacology and therapeutics (01.10.2014)
Published in Clinical pharmacology and therapeutics (01.10.2014)
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Journal Article
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network
Bush, WS, Crosslin, DR, Owusu‐Obeng, A, Wallace, J, Almoguera, B, Basford, MA, Bielinski, SJ, Carrell, DS, Connolly, JJ, Crawford, D, Doheny, KF, Gallego, CJ, Gordon, AS, Keating, B, Kirby, J, Kitchner, T, Manzi, S, Mejia, AR, Pan, V, Perry, CL, Peterson, JF, Prows, CA, Ralston, J, Scott, SA, Scrol, A, Smith, M, Stallings, SC, Veldhuizen, T, Wolf, W, Volpi, S, Wiley, K, Li, R, Manolio, T, Bottinger, E, Brilliant, MH, Carey, D, Chisholm, RL, Chute, CG, Haines, JL, Hakonarson, H, Harley, JB, Holm, IA, Kullo, IJ, Jarvik, GP, Larson, EB, McCarty, CA, Williams, MS, Denny, JC, Rasmussen‐Torvik, LJ, Roden, DM, Ritchie, MD
Published in Clinical pharmacology and therapeutics (01.08.2016)
Published in Clinical pharmacology and therapeutics (01.08.2016)
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Journal Article
Five years’ experience of the clinical exome sequencing in a Spanish single center
Arteche-López, A., Ávila-Fernández, A., Riveiro Álvarez, R., Almoguera, B., Bustamante Aragonés, A., Martin-Merida, I., López Martínez, M. A., Giménez Pardo, A., Vélez-Monsalve, C., Gallego Merlo, J., García Vara, I., Blanco-Kelly, F., Tahsin Swafiri, S., Lorda Sánchez, I., Trujillo Tiebas, M. J., Ayuso, C.
Published in Scientific reports (10.11.2022)
Published in Scientific reports (10.11.2022)
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Journal Article
Transplantation Genetics: Current Status and Prospects
Almoguera, B., Shaked, A., Keating, B. J.
Published in American journal of transplantation (01.04.2014)
Published in American journal of transplantation (01.04.2014)
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Journal Article
Risk of pre‐eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case–control study
Gray, KJ, Kovacheva, VP, Mirzakhani, H, Bjonnes, AC, Almoguera, B, Wilson, ML, Ingles, SA, Lockwood, CJ, Hakonarson, H, McElrath, TF, Murray, JC, Norwitz, ER, Karumanchi, SA, Bateman, BT, Keating, BJ, Saxena, R
Published in BJOG : an international journal of obstetrics and gynaecology (01.01.2021)
Published in BJOG : an international journal of obstetrics and gynaecology (01.01.2021)
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Journal Article
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
Published in The pharmacogenomics journal (01.04.2013)
Published in The pharmacogenomics journal (01.04.2013)
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Journal Article
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, M J, Ayuso, C
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
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Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis
Vallespin, Elena, Avila-Fernandez, A, Velez-Monsalve, C, Almoguera, B, Martinez-Garcia, M, Gomez-Dominguez, B, Gonzalez-Roubaud, C, Cantalapiedra, D, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)
Vallespin, Elena, Avila-Fernandez, A, Almoguera, B, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
366 Adverse reproductive outcomes among women with hidradenitis suppurativa
Colvin, A., Dabela, E., Khan, A., Hayes, M., Connolly, J., Mentch, F., Almoguera, B., Hakonarson, H., Mukherjee, E., Hripcsak, G., Weng, C., Kiryluk, K., Wheless, L., Petukhova, L.
Published in Journal of investigative dermatology (01.05.2021)
Published in Journal of investigative dermatology (01.05.2021)
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Journal Article
854 GWAS of acne vulgaris among African Americans
Khan, A., Hayes, M., Connolly, J., Mentch, F., Almoguera, B., Hakonarson, H., Denny, J., Wang, C., Hripcsak, G., Kiryluk, K., Petukhova, L.
Published in Journal of investigative dermatology (01.05.2019)
Published in Journal of investigative dermatology (01.05.2019)
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Journal Article
570 A genome-wide association study in an African American cohort implicates IL-12A in acne
Khan, A., McGovern, J., Yang, Z., Wang, C., Hughes, T., Dabela, E., Garzon, M.C., Lauren, C.T., Levin, L.E., Dai, Z., Hayes, M., Connolly, J., Mentch, F., Almoguera, B., Sleiman, P., Hakonarson, H., Denny, J., Love, J.C., Shalek, A.K., Hripcsak, G., Weng, C., Ionita-Laza, I., Kiryluk, K., Petukhova, L.
Published in Journal of investigative dermatology (01.05.2021)
Published in Journal of investigative dermatology (01.05.2021)
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Journal Article
Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study
Perea-Romero, I., Fernández-Caballero, L., Iancu, I.F., Rodilla, C., Martín-Mérida, I., Ávila-Fernández, A., Almoguera, B., Riveiro-Álvarez, R., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Tahsin-Swafiri, S., López-Grondona, F., Sánchez, A.I., Blanco-Kelly, F., Pozo-Valero, M., Mínguez, P., Millán, J.M., Martín-Gutiérrez, P., Jiménez-Rolando, B., Carreño, E., García-Sandoval, B., Cortón, M., Ayuso, C.
Published in Anales de la Real Academia Nacional de Medicina, Madrid (2023)
Published in Anales de la Real Academia Nacional de Medicina, Madrid (2023)
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Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients
Gallardo, M. Esther, García-Pavía, Pablo, Chamorro, Raquel, Vázquez, María E., Gómez-Bueno, Manuel, Millán, Isabel, Almoguera, Berta, Domingo, Verónica, Segovia, Javier, Vilches, Carlos, Alonso-Pulpón, Luis, Garesse, Rafael, Bornstein, Belén
Published in European heart journal (01.02.2012)
Published in European heart journal (01.02.2012)
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Journal Article
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, Maria, Auz-Alexandre, Carmen Laura, Almoguera, Berta, Cantalapiedra, Diego, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Gimenez, Ascension, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Trujillo-Tiebas, Maria Jose, Garcia-Sandoval, Blanca, Ramos, Carmen, Ayuso, Carmen
Published in Molecular vision (29.04.2011)
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Published in Molecular vision (29.04.2011)
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