Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,004 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
GM1 gangliosidosis type II: Results of a 10-year prospective study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Among authors: brewer c. Genet Med. 2024 Apr 16;26(7):101144. doi: 10.1016/j.gim.2024.101144. Online ahead of print. Genet Med. 2024. PMID: 38641994
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Among authors: brewer c. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.
Genetic hearing loss: the audiologist's perspective.
Brewer CC, King KA. Brewer CC, et al. Hum Genet. 2022 Apr;141(3-4):311-314. doi: 10.1007/s00439-021-02360-6. Epub 2021 Sep 4. Hum Genet. 2022. PMID: 34480642 Free PMC article.
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Nolen RM, et al. Among authors: brewer cc. Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6. Ophthalmic Genet. 2020. PMID: 32372680 Free PMC article. Review.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: brewer c. Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. Am J Hum Genet. 2015. PMID: 26046366 Free PMC article.
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Schultz JM, et al. Among authors: brewer cc. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940737
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Huynh N, et al. Among authors: brewer cc. Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. Epub 2013 Sep 5. Am J Ophthalmol. 2013. PMID: 24012100 Free PMC article.
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Doherty ES, et al. Among authors: brewer c. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078. Am J Med Genet A. 2007. PMID: 18000976
1,004 results