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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2014
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriersSarah L Nolin, Anne Glicksman, Nicole Ersalesi, et al.
The Journal of Molecular Diagnostics : JMD|December 24, 2019
Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay SystemStacey Lee, Jennifer L Taylor, Charles Redmond, et al.
The Journal of Molecular Diagnostics : JMD|November 2, 2013
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysisMarina Grasso, Elles M J Boon, Stela Filipovic-Sadic, et al.
Clinical Chemistry|January 9, 2010
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndromeStela Filipovic-Sadic, Sachin Sah, Liangjing Chen, et al.
American Journal of Medical Genetics. Part A|May 4, 2019
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation allelesSarah L Nolin, Anne Glicksman, Nicole Tortora, et al.
Frontiers in Genetics|January 9, 2019
Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation CarriersNoam Domniz, Liat Ries-Levavi, Yoram Cohen, et al.
American Journal of Medical Genetics. Part A|February 28, 2013
Fragile X AGG analysis provides new risk predictions for 45-69 repeat allelesSarah L Nolin, Sachin Sah, Anne Glicksman, et al.
The Journal of Molecular Diagnostics : JMD|January 17, 2013
Targeted, high-depth, next-generation sequencing of cancer genes in formalin-fixed, paraffin-embedded and fine-needle aspiration tumor specimensAndrew G Hadd, Jeff Houghton, Ashish Choudhary, et al.
Clinical and Translational Science|March 12, 2025
Establishing a Common Lexicon for Circulating Tumor DNA Analysis and Molecular Residual Disease: Insights From the BLOODPAC ConsortiumAndrew G Hadd, Angela Silvestro, Brittany Avin McKelvey, et al.
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