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

117 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A brief review of recent Charcot-Marie-Tooth research and priorities.
Ekins S, Litterman NK, Arnold RJ, Burgess RW, Freundlich JS, Gray SJ, Higgins JJ, Langley B, Willis DE, Notterpek L, Pleasure D, Sereda MW, Moore A. Ekins S, et al. Among authors: higgins jj. F1000Res. 2015 Feb 26;4:53. doi: 10.12688/f1000research.6160.1. eCollection 2015. F1000Res. 2015. PMID: 25901280 Free PMC article. Review.
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ. DiVincenzo C, et al. Among authors: higgins jj. Mol Genet Genomic Med. 2014 Nov;2(6):522-9. doi: 10.1002/mgg3.106. Epub 2014 Aug 21. Mol Genet Genomic Med. 2014. PMID: 25614874 Free PMC article.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Among authors: higgins jj. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.
The Brain Health Assessment for Detecting and Diagnosing Neurocognitive Disorders.
Possin KL, Moskowitz T, Erlhoff SJ, Rogers KM, Johnson ET, Steele NZR, Higgins JJ, Stiver J, Alioto AG, Farias ST, Miller BL, Rankin KP. Possin KL, et al. Among authors: higgins jj. J Am Geriatr Soc. 2018 Jan;66(1):150-156. doi: 10.1111/jgs.15208. J Am Geriatr Soc. 2018. PMID: 29355911 Free PMC article.
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.
Steele NZ, Bright AR, Lee SE, Fong JC, Bonham LW, Karydas A, Karbassi ID, Pribadi M, Meservey MA, Gallen MC, Ramos EM, Liaquat K, Hoffman CC, Krasner MR, Dodge W, L Miller B, Coppola G, Rankin KP, Yokoyama JS, Higgins JJ. Steele NZ, et al. Among authors: higgins jj. Adv Genomics Genet. 2018;8:23-33. doi: 10.2147/AGG.S164047. Epub 2018 Oct 25. Adv Genomics Genet. 2018. PMID: 31031559 Free PMC article.
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J. Vasale J, et al. Neuromuscul Disord. 2015 Dec;25(12):945-51. doi: 10.1016/j.nmd.2015.08.008. Epub 2015 Aug 21. Neuromuscul Disord. 2015. PMID: 26420234
Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M. Fujinami K, et al. Among authors: higgins jj. Br J Ophthalmol. 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. Br J Ophthalmol. 2024. PMID: 37940365 Free PMC article. Review.
117 results