Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity

(2012) Jean-Baptiste Vannier et al.   CELL

RTEL1 contributes to DNA replication and repair and telomere maintenance

(2012) Evert-Jan Uringa et al.   MOLECULAR BIOLOGY OF THE CELL

CTC1 Mutations in a patient with dyskeratosis congenita

(2012) Rachel B. Keller et al.   PEDIATRIC BLOOD & CANCER

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kaviar: an accessible system for testing SNV novelty

(2011) Gustavo Glusman et al.   BIOINFORMATICS

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

(2011) B. P. Alter et al.   HAEMATOLOGICA

Cancer susceptibility variants and the risk of adult glioma in a US case–control study

(2011) Kathleen M. Egan et al.   JOURNAL OF NEURO-ONCOLOGY

Dyskeratosis congenita as a disorder of telomere maintenance

(2011) Nya D. Nelson et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The genetics and clinical manifestations of telomere biology disorders

(2010) Sharon A. Savage et al.   GENETICS IN MEDICINE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

ProPhylER: A curated online resource for protein function and structure based on evolutionary constraint analyses

(2009) J. Binkley et al.   GENOME RESEARCH

Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility

(2009) Margaret Wrensch et al.   NATURE GENETICS

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

(2009) Thorunn Rafnar et al.   NATURE GENETICS

Genome-wide association study identifies five susceptibility loci for glioma

(2009) Sanjay Shete et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

(2008) Sharon A. Savage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex

(2007) T.J. Vulliamy et al.   BIOCHIMIE