Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

(2012) C. Alexander Valencia et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

(2012) E.M. Clement et al.   NEUROMUSCULAR DISORDERS

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

(2009) Umbertina Conti Reed   ARQUIVOS DE NEURO-PSIQUIATRIA

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

(2009) Umbertina Conti Reed   ARQUIVOS DE NEURO-PSIQUIATRIA

Next-Generation Sequencing: From Basic Research to Diagnostics

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

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Targeted sequencing with microfluidics

(2009) Ewen F Kirkness   NATURE BIOTECHNOLOGY

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

(2009) Emily Hodges et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing

(2009) Sergey I. Nikolaev et al.   PLoS One

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

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing

(2008) Dirk Goossens et al.   HUMAN MUTATION

Keeping Up With the Next Generation

(2008) John R. ten Bosch et al.   JOURNAL OF MOLECULAR DIAGNOSTICS