Combined linkage analysis and exome sequencing identifies novel genes for familial goiter

Linkage Analysis in the Next-Generation Sequencing Era

(2011) Joan E. Bailey-Wilson et al.   HUMAN HEREDITY

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Exome Sequencing Reveals Comprehensive Genomic Alterations across Eight Cancer Cell Lines

(2011) Han Chang et al.   PLoS One

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

(2010) Héctor M. Targovnik et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Importing Mitochondrial Proteins: Machineries and Mechanisms

(2009) Agnieszka Chacinska et al.   CELL

TSHRMutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study

(2009) Satoshi Narumi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

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

(2009) Prateek Kumar et al.   Nature Protocols

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

Past, present, and future of environmental specimen banks

(2009) Akio Koizumi et al.   Environmental Health and Preventive Medicine

Next-Generation DNA Sequencing Methods

(2008) Elaine R. Mardis   Annual Review of Genomics and Human Genetics