Publications by authors named "Elizabeth Barrie"

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Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor-forming potential in an early-stage prostate cancer epithelial subline (M2205).
Prabakaran Paulraj, Elizabeth Barrie, Colleen Jackson-Cook

Mol Genet Genomic Med· January 2024

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Severe Graft-Versus-Host Disease Following Solid-Organ Transplant Confirmed by Chimerism Studies and Cytogenetic Analyses.
Kelly A Rafferty, Elizabeth S Barrie, Scott A Turner, Andrea Ferreira-Gonzalez, Colleen Jackson-Cook

Exp Clin Transplant· November 2022

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Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Nancy C Rose, Elizabeth S Barrie, Jennifer Malinowski, Gabrielle P Jenkins, Monica R McClain

Genet Med· September 2022

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Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report.
Joseph Gillam, Aida Catic, Prabakaran Paulraj, Justin Dalton, Guanhua Lai, Elizabeth Barrie

Genes Chromosomes Cancer· August 2022

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Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Nancy C Rose, Elizabeth S Barrie, Jennifer Malinowski, Gabrielle P Jenkins, Monica R McClain

Genet Med· July 2022

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Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Elizabeth S Barrie, Eline Overwater, Mieke M van Haelst, M Mahdi Motazacker, Kristen V Truxal

Am J Med Genet A· May 2020

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Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Elizabeth S Barrie, Catherine E Cottrell, Julie Gastier-Foster, Scott E Hickey, Anup D Patel

Eur J Med Genet· March 2020

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Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Anna Morgan, Daniel C Koboldt, Elizabeth S Barrie, Erin R Crist, Gema García García

Hum Mutat· December 2019

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De novo loss-of-function variants in () associate with a subset of Wolf-Hirschhorn syndrome.
Elizabeth S Barrie, Maria P Alfaro, Ruthann B Pfau, Melanie J Goff, Kim L McBride

Cold Spring Harb Mol Case Stud· August 2019

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Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.
Elizabeth S Barrie, Yu Li, Devon Lamb-Thrush, Sayaka Hashimoto, Theodora Matthews

Eur J Med Genet· July 2018

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Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD.
Elizabeth S Barrie, Julia K Pinsonneault, Wolfgang Sadee, Jill A Hollway, Benjamin L Handen

J Dev Phys Disabil· June 2018

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Alpha-synuclein mRNA isoform formation and translation affected by polymorphism in the human SNCA 3'UTR.
Elizabeth S Barrie, Sung-Ha Lee, John T Frater, Maria Kataki, Douglas W Scharre

Mol Genet Genomic Med· May 2018

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Human Bacterial Artificial Chromosome (BAC) Transgenesis Fully Rescues Noradrenergic Function in Dopamine β-Hydroxylase Knockout Mice.
Joseph F Cubells, Jason P Schroeder, Elizabeth S Barrie, Daniel F Manvich, Wolfgang Sadee

PLoS One· July 2017

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The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.
Elizabeth S Barrie, Katherine Hartmann, Sung-Ha Lee, John T Frater, Michal Seweryn

Hum Mutat· January 2017

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Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus.
Jonathan C Sanford, Xinwen Wang, Jian Shi, Elizabeth S Barrie, Danxin Wang

Pharmacogenet Genomics· May 2016

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Role of ITGAE in the development of autoimmune diabetes in non-obese diabetic mice.
Elizabeth S Barrie, Mels Lodder, Paul H Weinreb, Jill Buss, Amer Rajab

J Endocrinol· March 2015

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Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.
Elizabeth S Barrie, David Weinshenker, Anurag Verma, Sarah A Pendergrass, Leslie A Lange

Circ Res· December 2014

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mRNA transcript diversity creates new opportunities for pharmacological intervention.
Elizabeth S Barrie, Ryan M Smith, Jonathan C Sanford, Wolfgang Sadee

Mol Pharmacol· May 2012

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