Associated Papers
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T et al.
Clinical Genetics, 2012
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ et al.
Blood, 2008
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