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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

11 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Among authors: towne cf. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH. Nicholson G, et al. Among authors: towne cf. Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148. Brain. 2011. PMID: 21705420 Free PMC article.
Next-generation carrier screening.
Umbarger MA, Kennedy CJ, Saunders P, Breton B, Chennagiri N, Emhoff J, Greger V, Hallam S, Maganzini D, Micale C, Nizzari MM, Towne CF, Church GM, Porreca GJ. Umbarger MA, et al. Among authors: towne cf. Genet Med. 2014 Feb;16(2):132-40. doi: 10.1038/gim.2013.83. Epub 2013 Jun 13. Genet Med. 2014. PMID: 23765052 Free PMC article.
11 results