A Dual-Mode Single-Molecule Fluorescence Assay for the Detection of Expanded CGG Repeats in Fragile X Syndrome

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

Fast high-resolution mapping of long fragments of genomic DNA based on single-molecule detection

(2010) Ekaterina Protozanova et al.   ANALYTICAL BIOCHEMISTRY

AGG Interruptions in (CGG)nDNA Repeat Tracts Modulate the Structure and Thermodynamics of Non-B Conformations in Vitro

(2010) Daniel A. Jarem et al.   BIOCHEMISTRY

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

(2010) Feras M Hantash et al.   GENETICS IN MEDICINE

A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis

(2010) Elaine Lyon et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

(2010) Liangjing Chen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A microfluidic chip-compatible bioassay based on single-molecule detection with high sensitivity and multiplexing

(2010) Randall E. Burton et al.   LAB ON A CHIP

A Unified Rapid PCR Method for Detection of Normal and Expanded Trinucleotide Alleles of CAG Repeats in Huntington Chorea and CGG Repeats in Fragile X Syndrome

(2010) Tihomir Todorov et al.   MOLECULAR BIOTECHNOLOGY

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Committee Opinion No. 469: Carrier Screening for Fragile X Syndrome

(2010)   OBSTETRICS AND GYNECOLOGY

Super-Resolution Fluorescence Microscopy

(2009) Bo Huang et al.   Annual Review of Biochemistry

Microsatellite repeat instability and neurological disease

(2009) Judith R. Brouwer et al.   BIOESSAYS

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

(2009) Isabel Fernandez-Carvajal et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Single-molecule sequencing of an individual human genome

(2009) Dmitry Pushkarev et al.   NATURE BIOTECHNOLOGY

Single-nucleotide discrimination in immobilized DNA oligonucleotides with a biological nanopore

(2009) D. Stoddart et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanded clinical phenotype of women with theFMR1 premutation

(2008) Sarah M. Coffey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Real-time, multiplexed electrochemical DNA detection using an active complementary metal-oxide-semiconductor biosensor array with integrated sensor electronics

(2008) Peter M. Levine et al.   BIOSENSORS & BIOELECTRONICS

DNA energy landscapes via calorimetric detection of microstate ensembles of metastable macrostates and triplet repeat diseases

(2008) J. Volker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

(2008) Mahmoud S Khaniani et al.   Molecular Cytogenetics