Publications by authors named "Michele G Mehaffey"

11Publications

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.

Dev Med Child Neurol 2020 Sep 23;62(9):1096-1099. Epub 2019 Dec 23.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1111/dmcn.14428DOI Listing
September 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Am J Med Genet C Semin Med Genet 2018 12;178(4):432-439

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.

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http://dx.doi.org/10.1002/ajmg.c.31666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540982PMC
December 2018

Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial.

J Mol Diagn 2016 Jan 18;18(1):51-67. Epub 2015 Nov 18.

Molecular Characterization and Clinical Assay Development Laboratory, Leidos Biomedical Research Inc., and Frederick National Laboratory for Cancer Research, Frederick, Maryland; Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.jmoldx.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812775PMC
January 2016

Regulation and expression of the ATP-binding cassette transporter ABCG2 in human embryonic stem cells.

Stem Cells 2012 Oct;30(10):2175-87

Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/stem.1195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3480739PMC
October 2012