Publications by authors named "Gary J Latham"

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A Dual-Mode Targeted Nanopore Sequencing Assay for Comprehensive SMN1 and SMN2 Variant Analysis.
Bradley Hall, Sawsan Alyafei, Sathishkumar Ramaswamy, Shruti Sinha, Maha El Naofal, Gary J Latham

J Mol Diagn· June 2025

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Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Bradley Hall, John N Milligan, Kevin Kelnar, Elliot Hallmark, Jacob D Ashton, Gary J Latham

Arch Pathol Lab Med· October 2024

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Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
John N Milligan, Jessica L Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Gary J Latham

J Mol Diagn· June 2021

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A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene ().
Alessandro De Luca, Annunziata Morella, Federica Consoli, Sergio Fanelli, Julie R Thibert, Gary J Latham

Int J Mol Sci· February 2021

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A Genotype-Phenotype Study of High-Resolution Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Dejan B Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, Dragana D Protic, Eran Bram, Gary J Latham

Brain Sci· September 2020

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Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Stacey Lee, Jennifer L Taylor, Charles Redmond, Andrew G Hadd, Jon A Kemppainen, Gary J Latham

J Mol Diagn· March 2020

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Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Sarah L Nolin, Anne Glicksman, Nicole Tortora, Emily Allen, James Macpherson, Gary J Latham

Am J Med Genet A· July 2019

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An Integrated Next-Generation Sequencing System for Analyzing DNA Mutations, Gene Fusions, and RNA Expression in Lung Cancer.
Brian C Haynes, Richard A Blidner, Robyn D Cardwell, Robert Zeigler, Shobha Gokul, Gary J Latham

Transl Oncol· June 2019

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Design, Optimization, and Multisite Evaluation of a Targeted Next-Generation Sequencing Assay System for Chimeric RNAs from Gene Fusions and Exon-Skipping Events in Non-Small Cell Lung Cancer.
Richard A Blidner, Brian C Haynes, Stephen Hyter, Sarah Schmitt, Ziyan Y Pessetto, Gary J Latham

J Mol Diagn· March 2019

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Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.
Eran Bram, Kamyab Javanmardi, Kimberly Nicholson, Kristen Culp, Julie R Thibert, Gary J Latham

Amyotroph Lateral Scler Frontotemporal Degener· February 2019

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Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.
Noam Domniz, Liat Ries-Levavi, Yoram Cohen, Lilach Marom-Haham, Michal Berkenstadt, Gary J Latham

Front Genet· December 2018

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Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.
David H Barad, Sarah Darmon, Andrea Weghofer, Gary J Latham, Filipovic-Sadic

Reprod Biol Endocrinol· April 2017

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A methylation PCR method determines activation ratios and differentiates premutation allele mosaicism in carrier siblings.
Andrew G Hadd, Stela Filipovic-Sadic, Lili Zhou, Arianna Williams, Gary J Latham

Clin Epigenetics· March 2017

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies.
Jeffrey Houghton, Andrew G Hadd, Robert Zeigler, Brian C Haynes, Gary J Latham

J Vis Exp· April 2016

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Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
Xiaoli Chen, Jingmin Wang, Hua Xie, Wenjuan Zhou, Ye Wu, Gary J Latham

BMC Pediatr· July 2015

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Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
Sarah L Nolin, Anne Glicksman, Nicole Ersalesi, Carl Dobkin, W Ted Brown, Gary J Latham

Genet Med· May 2015

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In reply.
Shidong Jia, Liangxuan Zhang, Gary J Latham

Oncologist· May 2015

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Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial.
Joshua R Kapp, Tim Diss, James Spicer, Michael Gandy, Iris Schrijver, Gary J Latham

J Clin Pathol· February 2015

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Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel.
Ashish Choudhary, Elizabeth Mambo, Tiffany Sanford, Michael Boedigheimer, Brian Twomey, Gary J Latham

BMC Med Genomics· November 2014

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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
Carolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, Montserrat Naudo, Jordi Genoves, Gary J Latham

J Neurodev Disord· August 2014

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The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.
Gary J Latham, Justine Coppinger, Andrew G Hadd, Sarah L Nolin

Front Genet· August 2014

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CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.
Dalyir I Pretto, Guadalupe Mendoza-Morales, Joyce Lo, Ru Cao, Andrew Hadd, Gary J Latham

J Med Genet· May 2014

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Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing.
Liangxuan Zhang, Liangjing Chen, Sachin Sah, Gary J Latham, Rajesh Patel

Oncologist· April 2014

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A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
Marina Grasso, Elles M J Boon, Stela Filipovic-Sadic, Patrick A van Bunderen, Elena Gennaro, Gary J Latham

J Mol Diagn· January 2014

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Next-generation sequencing of formalin-fixed, paraffin-embedded tumor biopsies: navigating the perils of old and new technology to advance cancer diagnosis.
Gary J Latham

Expert Rev Mol Diagn· November 2013

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