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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: torres a. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Mutation in PQBP1 is associated with periventricular heterotopia.
Sheen VL, Torres AR, Du X, Barry B, Walsh CA, Kimonis VE. Sheen VL, et al. Among authors: torres ar. Am J Med Genet A. 2010 Nov;152A(11):2888-90. doi: 10.1002/ajmg.a.33507. Am J Med Genet A. 2010. PMID: 20886605 Free PMC article. No abstract available.
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.
Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, Engle E. Godfrey D, et al. Among authors: torres a. Ophthalmic Genet. 2021 Oct;42(5):612-614. doi: 10.1080/13816810.2021.1923040. Epub 2021 May 5. Ophthalmic Genet. 2021. PMID: 33949289 Free PMC article.
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. Torres A, et al. Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29922587 Free PMC article.
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. D'Gama AM, et al. Among authors: torres ar. Am J Med Genet A. 2021 Jan;185(1):203-207. doi: 10.1002/ajmg.a.61910. Epub 2020 Oct 9. Am J Med Genet A. 2021. PMID: 33037779 Free PMC article.
Congenital Hypotonia in Toddlerhood.
Steiner N, Torres A, Reddy A, Augustyn M. Steiner N, et al. Among authors: torres a. J Dev Behav Pediatr. 2017 Sep;38(7):556-557. doi: 10.1097/DBP.0000000000000497. J Dev Behav Pediatr. 2017. PMID: 28816914
Neuroimaging in Pediatric Epilepsy.
Shaikh Z, Torres A, Takeoka M. Shaikh Z, et al. Among authors: torres a. Brain Sci. 2019 Aug 7;9(8):190. doi: 10.3390/brainsci9080190. Brain Sci. 2019. PMID: 31394851 Free PMC article.
4,707 results