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Page 1
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ; New York State Cystic Fibrosis Newborn Screening Consortium; van Roey P, Caggana M, Kay DM. Hughes EE, et al. Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2. Hum Mutat. 2016. PMID: 26538069
Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation.
da Fonseca LLCG, Rocha DN, Cintra HA, de Araújo LL, Dos Santos GLM, de Faria LL, Salú MDS, Leite SHDS, Rocha AD, Lopes MDCB, Ferreira IR, Gomes LHF, Guida LC. da Fonseca LLCG, et al. Among authors: guida lc. Genes (Basel). 2024 May 18;15(5):641. doi: 10.3390/genes15050641. Genes (Basel). 2024. PMID: 38790270 Free PMC article.
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
Borda V, da Silva Francisco Junior R, Carvalho JB, Morais GL, Duque Rossi Á, Pezzuto P, Azevedo GS, Schamber-Reis BL, Portari EA, Melo A, Moreira MEL, Guida LC, Cunha DP, Gomes L, Vasconcelos ZFM, Faucz FR, Tanuri A, Stratakis CA, Aguiar RS, Cardoso CC, Vasconcelos ATR. Borda V, et al. Among authors: guida lc. PLoS Negl Trop Dis. 2021 Jun 14;15(6):e0009507. doi: 10.1371/journal.pntd.0009507. eCollection 2021 Jun. PLoS Negl Trop Dis. 2021. PMID: 34125832 Free PMC article.