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(2014) D. G. MacArthur et al.   NATURE

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(2014) S. E. Soden et al.   Science Translational Medicine

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(2013) Carla G van El et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

(2013) Sarah L. Sawyer et al.   HUMAN MUTATION

Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Mutations ofANK3identified by exome sequencing are associated with autism susceptibility

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Clinical application of exome sequencing in undiagnosed genetic conditions

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RARE CODING MUTATIONS AND RISK FOR EARLY-ONSET MYOCARDIAL INFARCTION: AN EXOME SEQUENCING STUDY OF >2,000 CASES AND CONTROLS

(2012) Nathan O. Stitziel   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Exome sequencing: the sweet spot before whole genomes

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A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Next-Generation Sequencing: From Basic Research to Diagnostics

(2009) K. V. Voelkerding et al.   CLINICAL CHEMISTRY

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS