Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

(2013) Amanda J. Walne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

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

(2013) Bari J. Ballew et al.   HUMAN GENETICS

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

(2013) Tangui Le Guen et al.   HUMAN MOLECULAR GENETICS

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

(2013) Zhong Deng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TPP1 OB-Fold Domain Controls Telomere Maintenance by Recruiting Telomerase to Chromosome Ends

(2012) Franklin L. Zhong et al.   CELL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Specificity Requirements for Human Telomere Protein Interaction with Telomerase Holoenzyme

(2012) Alec N. Sexton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Telomerase Recruitment Requires both TCAB1 and Cajal Bodies Independently

(2012) J. L. Stern et al.   MOLECULAR AND CELLULAR BIOLOGY

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

(2012) Jayakrishnan Nandakumar et al.   NATURE

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

(2012) Beverley H Anderson et al.   NATURE GENETICS

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

Pulmonary Fibrosis, Bone Marrow Failure, and Telomerase Mutation

(2012) John M. Gansner et al.   NEW ENGLAND JOURNAL OF MEDICINE

CTC1 Mutations in a patient with dyskeratosis congenita

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

Detection of lineage-specific evolutionary changes among primate species

(2011) Mihaela Pertea et al.   BMC BIOINFORMATICS

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

(2011) F. Zhong et al.   GENES & DEVELOPMENT

The genetics and clinical manifestations of telomere biology disorders

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

TIN2-Tethered TPP1 Recruits Human Telomerase to Telomeres In Vivo

(2010) E. Abreu et al.   MOLECULAR AND CELLULAR BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

(2010) Alberto Diaz de Leon et al.   PLoS One

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

A Conserved WD40 Protein Binds the Cajal Body Localization Signal of scaRNP Particles

(2009) Kazimierz T. Tycowski et al.   MOLECULAR CELL

Telomere Diseases

(2009) Rodrigo T. Calado et al.   NEW ENGLAND JOURNAL OF MEDICINE

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia

(2009) R. T. Calado et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Human Telomerase Holoenzyme Protein Required for Cajal Body Localization and Telomere Synthesis

(2009) A. S. Venteicher et al.   SCIENCE

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

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita

(2008) F. D. Goldman et al.   BLOOD

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

(2008) A. J. Walne et al.   BLOOD

Distinct Functions of POT1 at Telomeres

(2008) K. S. Barrientos et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

(2008) T. Vulliamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA