Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications

(2016) Thang T. Pham et al.   MOLECULAR GENETICS AND GENOMICS

Polymerase specific error rates and profiles identified by single molecule sequencing

(2016) Matthew S. Hestand et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells

(2015) Masoud Zamani Esteki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

(2014) Valérie Biancalana et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

(2014) Sarah L. Nolin et al.   GENETICS IN MEDICINE

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

(2014) Senthilkumar A. Natesan et al.   GENETICS IN MEDICINE

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

(2014) Carolyn M Yrigollen et al.   Journal of Neurodevelopmental Disorders

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

(2014) Karen Usdin et al.   Frontiers in Genetics

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

(2013) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

(2013) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes

(2013) Seung Chul Shin et al.   PLoS One

The Role of Interruptions in polyQ in the Pathology of SCA1

(2013) Rajesh P. Menon et al.   PLoS Genetics

Pacific biosciences sequencing technology for genotyping and variation discovery in human data

(2012) Mauricio O Carneiro et al.   BMC GENOMICS

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

(2012) Flora Tassone et al.   Genome Medicine

Effect of Unexpected Sequence Interruptions to Conventional PCR and Repeat Primed PCR in Myotonic Dystrophy Type 1 Testing

(2011) Jan Radvansky et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

(2011) Sebastien Jacquemont et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

A standardized framework for the validation and verification of clinical molecular genetic tests

(2010) Christopher J Mattocks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

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

The European Nucleotide Archive

(2010) R. Leinonen et al.   NUCLEIC ACIDS RESEARCH

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

(2009) Zuzana Musova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS