Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia

(2015) Joy D. Cogan et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia

(2014) Jonathan A. Kropski et al.   CHEST

Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation

(2014) Bridget D Stuart et al.   Lancet Respiratory Medicine

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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

An Official American Thoracic Society/European Respiratory Society Statement: Update of the International Multidisciplinary Classification of the Idiopathic Interstitial Pneumonias

(2013) William D. Travis et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

(2013) Tasha E Fingerlin et al.   NATURE 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

Poly(A)-Specific Ribonuclease Mediates 3′-End Trimming of Argonaute2-Cleaved Precursor MicroRNAs

(2013) Mayuko Yoda et al.   Cell Reports

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

(2013) Bari J. Ballew et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

(2012) Jean-Baptiste Vannier et al.   CELL

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming

(2012) H. Berndt et al.   RNA

A Fast, Powerful Method for Detecting Identity by Descent

(2011) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis: Evidence-based Guidelines for Diagnosis and Management

(2011) Ganesh Raghu et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

(2011) E. M. Parry et al.   JOURNAL OF MEDICAL GENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

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

Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer

(2008) Yongyu Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

(2008) Jennifer T. Cronkhite et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

(2008) J. K. Alder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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