Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

(2014) Sarah M. Al-Qattan et al.   GENETICS IN MEDICINE

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Recessive Mutations inLEPREL1Underlie a Recognizable Lens Subluxation Phenotype

(2014) Arif O. Khan et al.   OPHTHALMIC GENETICS

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

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

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

Mandatory Extended Searches in All Genome Sequencing

(2013) Lainie Friedman Ross et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Return of Secondary Genomic Findings vs Patient Autonomy

(2013) Robert Klitzman et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disclosure of Incidental Findings From Next-Generation Sequencing in Pediatric Genomic Research

(2013) R. Abdul-Karim et al.   PEDIATRICS

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

(2012) Gabrielle M Christenhusz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Whole-genome and whole-exome sequencing in neurological diseases

(2012) Jia-Nee Foo et al.   Nature Reviews Neurology

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Exome sequencing: the sweet spot before whole genomes

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

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

How to Use an Article About Genetic Association

(2009) John Attia et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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