Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

(2014) Elizabeth M. Bonachea et al.   PEDIATRIC RESEARCH

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

(2013) Ilenia Foffa et al.   BMC Medical Genetics

Hereditary patterns of bicuspid aortic valve in a hundred families

(2013) Juan Robledo-Carmona et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The role of replicates for error mitigation in next-generation sequencing

(2013) Kimberly Robasky et al.   NATURE REVIEWS GENETICS

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modifying Mendel

(2012) Kim L. McBride et al.   Circulation-Cardiovascular Genetics

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

(2012) Ratnasari Padang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Risk factors for aortic valve disease in bicuspid aortic valve: A family-based study

(2011) Troy J. Calloway et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

(2011) Martin Kircher et al.   NUCLEIC ACIDS RESEARCH

Design of association studies with pooled or un-pooled next-generation sequencing data

(2010) Su Yeon Kim et al.   GENETIC EPIDEMIOLOGY

Wnt signaling in heart valve development and osteogenic gene induction

(2009) Christina M. Alfieri et al.   DEVELOPMENTAL BIOLOGY

Overlapping pools for high-throughput targeted resequencing

(2009) S. Prabhu et al.   GENOME RESEARCH

DNA Sudoku--harnessing high-throughput sequencing for multiplexed specimen analysis

(2009) Y. Erlich et al.   GENOME RESEARCH

Bicuspid Aortic Valves With Different Spatial Orientations of the Leaflets Are Distinct Etiological Entities

(2009) Borja Fernández et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

(2008) K. L. McBride et al.   HUMAN MOLECULAR GENETICS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH