FindingFMR1mosaicism in Fragile X syndrome

Fragile X mental retardation protein: A paradigm for translational control by RNA-binding proteins

(2015) Eileen Chen et al.   BIOCHIMIE

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

(2014) Dalyir I Pretto et al.   JOURNAL OF MEDICAL GENETICS

Think About It

(2013) Francesca Andrea Bonarrigo et al.   JOURNAL OF CHILD NEUROLOGY

Next generation sequencing for neurological diseases: New hope or new hype?

(2012) M.J. Keogh et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective

(2011) Michael R. Santoro et al.   Annual Review of Pathology-Mechanisms of Disease

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

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

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

Genomic rearrangements in inherited disease and cancer

(2010) Jian-Min Chen et al.   SEMINARS IN CANCER BIOLOGY

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

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

MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings

(2008) Mitch McVey et al.   TRENDS IN GENETICS

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