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Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot.
Zhao Y, Kang X, Gao F, Guzman A, Lau RP, Biniwale R, Wadehra M, Reemtsen B, Garg M, Halnon N, Quintero-Rivera F, Van Arsdell G, Coppola G, Nelson SF, Touma M; UCLA Congenital Heart Defects BioCore Faculty. Zhao Y, et al. Among authors: nelson sf. J Mol Med (Berl). 2019 Dec;97(12):1711-1722. doi: 10.1007/s00109-019-01857-y. Epub 2019 Dec 13. J Mol Med (Berl). 2019. PMID: 31834445 Free PMC article.
Interpreting whole-genome sequencing.
Grody WW, Vilain E, Nelson SF. Grody WW, et al. Among authors: nelson sf. JAMA. 2014 Jul 16;312(3):296. doi: 10.1001/jama.2014.6602. JAMA. 2014. PMID: 25027151 No abstract available.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: nelson sf. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: nelson sf. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.
A Path to Implement Precision Child Health Cardiovascular Medicine.
Touma M, Reemtsen B, Halnon N, Alejos J, Finn JP, Nelson SF, Wang Y. Touma M, et al. Among authors: nelson sf. Front Cardiovasc Med. 2017 Jun 1;4:36. doi: 10.3389/fcvm.2017.00036. eCollection 2017. Front Cardiovasc Med. 2017. PMID: 28620608 Free PMC article. Review.
Cardiac MRI biomarkers for Duchenne muscular dystrophy.
Magrath P, Maforo N, Renella P, Nelson SF, Halnon N, Ennis DB. Magrath P, et al. Among authors: nelson sf. Biomark Med. 2018 Nov;12(11):1271-1289. doi: 10.2217/bmm-2018-0125. Epub 2018 Nov 30. Biomark Med. 2018. PMID: 30499689 Free PMC article. Review.
400 results