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

Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders

(2020) Lauren A. Borch et al.   GENETICS IN MEDICINE

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

(2019) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity

(2019) Esther Manor et al.   Molecular Genetics & Genomic Medicine

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing

(2018) Kailey M. Owens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

(2018) Randi J. Hagerman et al.   Frontiers in Psychiatry

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

(2017) Veronique Weinstein et al.   GENETICS IN MEDICINE

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Committee Opinion No. 691

(2017)   OBSTETRICS AND GYNECOLOGY

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Genenames.org: the HGNC and VGNC resources in 2017

(2016) Bethan Yates et al.   NUCLEIC ACIDS RESEARCH

Fragile X-associated tremor/ataxia syndrome

(2015) Paul J. Hagerman et al.   Annals of the New York Academy of Sciences

Protein expression of targets of the FMRP regulon is altered in brains of subjects with schizophrenia and mood disorders

(2015) Timothy D. Folsom et al.   SCHIZOPHRENIA RESEARCH

Epidemiology of fragile X syndrome: A systematic review and meta-analysis

(2014) Jessica Hunter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Extra Alleles in FMR1 Triple-Primed PCR

(2014) Erin N. Wakeling et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

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

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

(2014) Gary J. Latham et al.   Frontiers in Genetics

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

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

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

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009)

(2012) Karen E. Weck 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

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

(2012) Brenda Finucane et al.   Journal of Genetic Counseling

A New Method for FMR1 Gene Methylation Screening by Multiplex Methylation-Specific Real-Time Polymerase Chain Reaction

(2011) Marjanu Hikmah Elias et al.   Genetic Testing and Molecular Biomarkers

Evaluation of the Human Fragile X Mental Retardation 1 Polymerase Chain Reaction Reagents to Amplify the FMR1 Gene: Testing in a Clinical Diagnostic Laboratory

(2011) Fatimah A. Nahhas et al.   Genetic Testing and Molecular Biomarkers

High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

(2011) Liangjing Chen et al.   GENETICS IN MEDICINE

Predictors and risk model development for menopausal age in fragile X premutation carriers

(2011) Marian A Spath et al.   GENETICS IN MEDICINE

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers

(2011) Deborah Hall et al.   MOVEMENT DISORDERS

FMR1 and the Continuum of Primary Ovarian Insufficiency

(2011) Shannon Sullivan et al.   SEMINARS IN REPRODUCTIVE MEDICINE

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

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio

(2010) David Eugeny Godler et al.   HUMAN MOLECULAR GENETICS

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

(2010) C. E. Bennett et al.   HUMAN REPRODUCTION

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

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

(2010)   OBSTETRICS AND GYNECOLOGY

Screening and instability ofFMR1alleles in a prospective sample of 24,449 mother–newborn pairs from the general population

(2009) S Lévesque et al.   CLINICAL GENETICS

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

(2009) Laia Rodriguez-Revenga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature

(2009) Jessica Ezzell Hunter et al.   GENETICS IN MEDICINE

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

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

Reproductive Health of Adolescent Girls Who Carry the FMR1 Premutation

(2008) John J. De Caro et al.   Annals of the New York Academy of Sciences

Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines

(2008) Kathryn E Kronquist et al.   GENETICS IN MEDICINE

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification Enables a Rapid and Reliable Distinction between Male FMR1 Premutation and Full-Mutation Alleles

(2008) Anders O.H. Nygren et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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