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

319 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383. Hum Mol Genet. 2017. PMID: 28013290 Free PMC article.
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Akizu N, et al. Among authors: gleeson jg. Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453666 Free PMC article.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. Akizu N, et al. Among authors: gleeson jg. Cell. 2013 Aug 1;154(3):505-17. doi: 10.1016/j.cell.2013.07.005. Cell. 2013. PMID: 23911318 Free PMC article.
The genetic landscape of autism spectrum disorders.
Rosti RO, Sadek AA, Vaux KK, Gleeson JG. Rosti RO, et al. Among authors: gleeson jg. Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Dev Med Child Neurol. 2014. PMID: 24116704 Free article. Review.
Primary cilia in neurodevelopmental disorders.
Valente EM, Rosti RO, Gibbs E, Gleeson JG. Valente EM, et al. Among authors: gleeson jg. Nat Rev Neurol. 2014 Jan;10(1):27-36. doi: 10.1038/nrneurol.2013.247. Epub 2013 Dec 3. Nat Rev Neurol. 2014. PMID: 24296655 Free PMC article. Review.
Mutations in CSPP1 lead to classical Joubert syndrome.
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Akizu N, et al. Among authors: gleeson jg. Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360807 Free PMC article.
319 results