Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing

Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing

(2022) Shuyuan Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

(2022) Kristina Ibañez et al.   LANCET NEUROLOGY

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing

(2022) Yingdi Liu et al.   CLINICAL CHEMISTRY

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2021) Elaine Spector et al.   GENETICS IN MEDICINE

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

(2021) Qiaowei Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

FMR1 and Autism, an Intriguing Connection Revisited

(2021) William Fyke et al.   Genes

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

(2021) Shiqiang Luo et al.   JOURNAL OF HUMAN GENETICS

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

(2021) Cedrik Tekendo-Ngongang et al.   Genes

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

(2021) Valentina Grosso et al.   Frontiers in Genetics

Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

(2019) Pay Giesselmann et al.   NATURE BIOTECHNOLOGY

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

(2018) Ida Höijer et al.   HUMAN MUTATION

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

(2018) Simon Ardui et al.   Frontiers in Genetics

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

(2017) Angélique Quartier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Simon Ardui et al.   HUMAN MUTATION

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers

(2017) Bruce E. Hayward et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects

(2014) Shiyu Luo et al.   JOURNAL OF CHILD NEUROLOGY

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

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

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

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

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

Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation

(2012) Jane S. Juusola et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

(2010) Stephen C. Collins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome

(2010) S. Filipovic-Sadic et al.   CLINICAL CHEMISTRY

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

MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

(2008) Bradford Coffee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation Spectra in Fragile X Syndrome Induced by Deletions of CGG·CCG Repeats

(2008) Robert D. Wells   JOURNAL OF BIOLOGICAL CHEMISTRY

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

(2007) Jean Amos Wilson et al.   JOURNAL OF MOLECULAR DIAGNOSTICS