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Page 1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: lusa bernal s. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Genome sequence of OXA-48 carbapenemase-producing Klebsiella pneumoniae KpO3210.
Wesselink JJ, López-Camacho E, de la Peña S, Ramos-Ruiz R, Ruiz-Carrascoso G, Lusa-Bernal S, Fernández-Soria VM, Gómez-Gil R, Gomez-Puertas P, Mingorance J. Wesselink JJ, et al. Among authors: lusa bernal s. J Bacteriol. 2012 Dec;194(24):6981. doi: 10.1128/JB.01897-12. J Bacteriol. 2012. PMID: 23209233 Free PMC article.
Population structure of OXA-48-producing Klebsiella pneumoniae ST405 isolates during a hospital outbreak characterised by genomic typing.
López-Camacho E, Paño-Pardo JR, Ruiz-Carrascoso G, Wesselink JJ, Lusa-Bernal S, Ramos-Ruiz R, Ovalle S, Gómez-Gil R, Pérez-Blanco V, Pérez-Vázquez M, Gómez-Puertas P, Mingorance J. López-Camacho E, et al. Among authors: lusa bernal s. J Glob Antimicrob Resist. 2018 Dec;15:48-54. doi: 10.1016/j.jgar.2018.06.008. Epub 2018 Jun 22. J Glob Antimicrob Resist. 2018. PMID: 29940334 Free article.
Design of clone-specific probes from genome sequences for rapid PCR-typing of outbreak pathogens.
López-Camacho E, Rentero Z, Ruiz-Carrascoso G, Wesselink JJ, Pérez-Vázquez M, Lusa-Bernal S, Gómez-Puertas P, Kingsley RA, Gómez-Sánchez P, Campos J, Oteo J, Mingorance J. López-Camacho E, et al. Among authors: lusa bernal s. Clin Microbiol Infect. 2014 Nov;20(11):O891-3. doi: 10.1111/1469-0691.12616. Epub 2014 Apr 4. Clin Microbiol Infect. 2014. PMID: 24606530 Free article.