A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition-Reference-Cited by-同舟云学术

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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

Published:2016-04-07 Issue:7 Volume:135 Page:707-713
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Shaheen Ranad,Han Lu,Faqeih Eissa,Ewida Nour,Alobeid Eman,Phizicky Eric M.,Alkuraya Fowzan S.

Funder

King Abdulaziz City for Science and Technology

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1665-7.pdf

Reference52 articles.

1. Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K (2012) Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet 90:847–855

2. Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A (2013) Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet 50:425–430

3. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10:148–161

4. Alkuraya FS (2012) Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Current protocols in human genetics: 6.12. 1–6.12. 13

5. Alkuraya FS (2013) The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet 132:1197–1211

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