Elizabeth S Barrie

Elizabeth S Barrie

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Elizabeth S Barrie

Elizabeth S Barrie

Publications by authors named "Elizabeth S Barrie"

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De novo loss-of-function variants in () associate with a subset of Wolf-Hirschhorn syndrome.

Cold Spring Harb Mol Case Stud 2019 Aug 1;5(4). Epub 2019 Aug 1.

The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43215, USA.

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http://dx.doi.org/10.1101/mcs.a004044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672030PMC
August 2019

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Eur J Med Genet 2019 Aug 12:103735. Epub 2019 Aug 12.

The Institute for Genomic Medicine at Nationwide Children's Hospital, USA; The Ohio State University College of Medicine, Department of Pathology, USA; The Ohio State University College of Medicine, Department of Pediatrics, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103735DOI Listing
August 2019

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Eur J Med Genet 2018 Jul 20;61(7):416-420. Epub 2018 Mar 20.

The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA; The Ohio State University College of Medicine, Department of Pathology, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.02.008DOI Listing
July 2018

Alpha-synuclein mRNA isoform formation and translation affected by polymorphism in the human SNCA 3'UTR.

Mol Genet Genomic Med 2018 May 6. Epub 2018 May 6.

Center for Pharmacogenomics, Department of Cancer Biology and Genetics, College of Medicine, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1002/mgg3.407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081226PMC
May 2018

The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.

Hum Mutat 2017 01 7;38(1):112-119. Epub 2016 Nov 7.

Center for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1002/humu.23135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154896PMC
January 2017

Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus.

Pharmacogenet Genomics 2016 May;26(5):197-207

aCenter for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus, Ohio bDepartment of Clinical Pharmacy, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1097/FPC.0000000000000206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821783PMC
May 2016

Role of ITGAE in the development of autoimmune diabetes in non-obese diabetic mice.

J Endocrinol 2015 Mar 18;224(3):235-43. Epub 2014 Dec 18.

The Ohio State University Wexner Medical CenterRoom 216 Tzagournis Medical Research Facility, 420 W 12th Avenue, Columbus, Ohio 43201, USABiogen IdecCambridge, Massachusetts 02142, USACollege of Veterinary MedicineColumbus, Ohio 43201 USAHenry Ford HospitalDetroit, Michigan 48202, USA

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http://dx.doi.org/10.1530/JOE-14-0396DOI Listing
March 2015

Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.

Circ Res 2014 Dec 17;115(12):1017-25. Epub 2014 Oct 17.

From the Center for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus (E.S.B., J.K.P., W.S.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (D.W., J.F.C.); Center for Systems Genomics, Pennsylvania State University, University Park (A.V., S.A.P., M.D.R.); Department of Genetics, University of North Carolina School of Medicine, Chapel Hill (L.A.L.); Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson (J.G.W.); The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, PA (H.K., G.T., D.J.C.); Institute for Personalized Medicine, The Pennsylvania State University College of Medicine, Hershey (G.S.G.); Center for Human Genetics, Marshfield Clinic Research Foundation, WI (M.H.B., S.J.H.); and Department of Psychology, The University of Chicago, IL (G.J.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.304398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258174PMC
December 2014

mRNA transcript diversity creates new opportunities for pharmacological intervention.

Mol Pharmacol 2012 May 7;81(5):620-30. Epub 2012 Feb 7.

Program in Pharmacogenomics, Department of Pharmacology, The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1124/mol.111.076604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3336806PMC
May 2012