Publications by authors named "Bradley Schaefer"

73Publications

A blue ring nebula from a stellar merger several thousand years ago.

Nature 2020 11 18;587(7834):387-391. Epub 2020 Nov 18.

Department of Physics and Astronomy, Louisiana State University, Baton Rouge, LA, USA.

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November 2020

Rates of diagnostic genetic testing in a tertiary ocular genetics clinic.

Ophthalmic Genet 2020 06 27;41(3):271-274. Epub 2020 Apr 27.

Harvey and Bernice Jones Eye Institute, University of Arkansas for Medical Sciences College of Medicine , Little Rock, AR, USA.

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June 2020

Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome.

Acta Neurol Belg 2020 Jun 10;120(3):713-716. Epub 2019 Jul 10.

Division of Genetics, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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June 2020

The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy.

Acta Neurol Belg 2020 Apr 16;120(2):447-450. Epub 2019 Mar 16.

Division of Genetics, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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April 2020

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

Ophthalmic Genet 2017 12 8;38(6):570-574. Epub 2017 May 8.

a Jones Eye Institute, University of Arkansas for Medical Sciences , Little Rock , Arkansas , USA.

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December 2017

Correction: G. Bradley Schaefer. Clinical Genetic Aspects of ASD Spectrum Disorders. Int. J. Mol. Sci. 2016, 17, 180.

Int J Mol Sci 2016 Sep 19;17(9). Epub 2016 Sep 19.

University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, Slot 512-22, Little Rock, AR 72202, USA.

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September 2016

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Mol Genet Genomic Med 2016 Jul 3;4(4):465-74. Epub 2016 Apr 3.

Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK.

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July 2016