Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Genetic Diagnosis in Consanguineous Families With Kidney Disease by Homozygosity Mapping Coupled With Whole-Exome Sequencing

(2011) Khaldoun I. Al-Romaih et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

(2011) Robert E Handsaker et al.   NATURE GENETICS

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences

(2010) Rita Gemayel et al.   Annual Review of Genetics

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Hereditary Interstitial Kidney Disease

(2010) Anthony J. Bleyer et al.   SEMINARS IN NEPHROLOGY

CKD Surveillance Using Laboratory Data From the Population-Based National Health and Nutrition Examination Survey (NHANES)

(2009) Alejandro F. Castro et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS