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An ELF4 hypomorphic variant results in NK cell deficiency.
Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. Salinas SA, et al. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Conte MI, et al. Among authors: salinas sa. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948. JCI Insight. 2022. PMID: 36345943 Free PMC article.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
Bainter W, Platt CD, Park SY, Stafstrom K, Wallace JG, Peters ZT, Massaad MJ, Becuwe M, Salinas SA, Jones J, Beaussant-Cohen S, Jaber F, Yang JS, Walther TC, Orange JS, Rao C, Rakoff-Nahoum S, Tsokos M, Naseem SUR, Al-Tamemi S, Chou J, Hsu VW, Geha RS. Bainter W, et al. Among authors: salinas sa. J Clin Invest. 2021 Feb 1;131(3):e140494. doi: 10.1172/JCI140494. J Clin Invest. 2021. PMID: 33529166 Free PMC article.
e-Health prototype system for cardiac telemonitoring.
Vargas Escobar LJ, Salinas SA. Vargas Escobar LJ, et al. Among authors: salinas sa. Annu Int Conf IEEE Eng Med Biol Soc. 2016 Aug;2016:4399-4402. doi: 10.1109/EMBC.2016.7591702. Annu Int Conf IEEE Eng Med Biol Soc. 2016. PMID: 28269253