Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

(2015) Tobias Eisenberger et al.   PLoS One

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing

(2014) Tao Yang et al.   CLINICA CHIMICA ACTA

A comprehensive search for mutations in thePKD1andPKD2in Japanese subjects with autosomal dominant polycystic kidney disease

(2014) M. Kurashige et al.   CLINICAL GENETICS

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next-Generation Sequencing

(2014) Adrian Y. Tan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Diagnosis of autosomal dominant polycystic kidney disease using efficientPKD1andPKD2targeted next-generation sequencing

(2014) Daniel Trujillano et al.   Molecular Genetics & Genomic Medicine

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

(2012) Marie-Pierre Audrézet et al.   HUMAN MUTATION

A Novel Long-Range PCR Sequencing Method for Genetic Analysis of the Entire PKD1 Gene

(2012) Ying-Cai Tan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

(2012) S. Rossetti et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

(2012) Vicente E. Torres et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

Tolvaptan in Autosomal Dominant Polycystic Kidney Disease: Three Years' Experience

(2011) E. Higashihara et al.   Clinical Journal of the American Society of Nephrology

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Unlocking Short Read Sequencing for Metagenomics

(2010) Sébastien Rodrigue et al.   PLoS One

DNA Testing for Live Kidney Donors at Risk for Autosomal Dominant Polycystic Kidney Disease

(2009) Edmund Huang et al.   TRANSPLANTATION

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

(2008) Y. Pei et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

(2008) Mark B. Consugar et al.   KIDNEY INTERNATIONAL