Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

(2014) Holly K. Tabor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Target enrichment using parallel nanoliter quantitative PCR amplification

(2014) Bram De Wilde et al.   BMC GENOMICS

Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples

(2014) Kristóf Árvai et al.   Familial Cancer

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling

(2014) Lucy-Enid Ding et al.   GENETICS IN MEDICINE

Detection of Mutations in Myeloid Malignancies through Paired-Sample Analysis of Microdroplet-PCR Deep Sequencing Data

(2014) Donavan T. Cheng et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

(2013) Zippora Brownstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia

(2013) Zhaojing Zheng et al.   GENE

Targeted Next-Generation Sequencing Panel (ThyroSeq) for Detection of Mutations in Thyroid Cancer

(2013) Marina N. Nikiforova et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

(2013) Xia Wang et al.   JOURNAL OF MEDICAL GENETICS

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

(2013) Olaf R F Mook et al.   JOURNAL OF MEDICAL GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

(2013) Theru A. Sivakumaran et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

(2013) Marta Corton et al.   PLoS One

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Targeted Next-generation Sequencing of Advanced Prostate Cancer Identifies Potential Therapeutic Targets and Disease Heterogeneity

(2012) Himisha Beltran et al.   EUROPEAN UROLOGY

A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach

(2012) Wenxue Tang et al.   Genetic Testing and Molecular Biomarkers

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities

(2012) Xi Lin et al.   HEARING RESEARCH

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

(2012) Byung-Ok Choi et al.   HUMAN MUTATION

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

(2012) Kerstin Knies et al.   PLoS One

Targeted enrichment of genomic DNA regions for next-generation sequencing

(2011) F. Mertes et al.   Briefings in Functional Genomics

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics

(2011) Kim De Leeneer et al.   PLoS One

Detection and quantification of rare mutations with massively parallel sequencing

(2011) I. Kinde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

(2011) André E Minoche et al.   GENOME BIOLOGY

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

The Next Generation Becomes the Now Generation

(2010) Diego A. Martinez et al.   PLoS Genetics

MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions

(2009) Seunghak Lee et al.   NATURE METHODS