Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

(2011) Flavia M Facio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

(2011) Jennifer L Sloan et al.   NATURE GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

(2010) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations

(2010) David Ng et al.   ATHEROSCLEROSIS

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants

(2010) Richard R. Fabsitz et al.   Circulation-Cardiovascular Genetics

Revealing the human mutome

(2010) JM Chen et al.   CLINICAL GENETICS

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

(2010) J. K. Teer et al.   GENOME RESEARCH

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Public Perspectives on Informed Consent for Biobanking

(2009) Juli Murphy et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

(2009) L. G. Biesecker et al.   GENOME RESEARCH