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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D. Huang Y, et al. Among authors: lacbawan fl. Mol Genet Metab Rep. 2021 Mar 3;27:100735. doi: 10.1016/j.ymgmr.2021.100735. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33732618 Free PMC article.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga C, Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R. Rosenthal SH, et al. Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020. Biomed Res Int. 2020. PMID: 32090079 Free PMC article.
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH, Gerasimova A, Ma C, Li HR, Grupe A, Chong H, Acab A, Smolgovsky A, Owen R, Elzinga C, Chen R, Sugganth D, Freitas T, Graham J, Champion K, Bhattacharya A, Racke F, Lacbawan F. Rosenthal SH, et al. PLoS One. 2021 Apr 28;16(4):e0243683. doi: 10.1371/journal.pone.0243683. eCollection 2021. PLoS One. 2021. PMID: 33909614 Free PMC article.
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME. Samimi G, et al. J Clin Oncol. 2017 Jul 10;35(20):2329-2337. doi: 10.1200/JCO.2016.70.3439. Epub 2017 Apr 11. J Clin Oncol. 2017. PMID: 28398847 Free PMC article.
Functional analysis of mutations in TGIF associated with holoprosencephaly.
El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M. El-Jaick KB, et al. Mol Genet Metab. 2007 Jan;90(1):97-111. doi: 10.1016/j.ymgme.2006.07.011. Epub 2006 Sep 7. Mol Genet Metab. 2007. PMID: 16962354 Free PMC article. Review.
46 results