Ashleigh E Schaffer

Ashleigh E Schaffer

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Ashleigh E Schaffer

Ashleigh E Schaffer

Publications by authors named "Ashleigh E Schaffer"

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16Publications

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tRNA Metabolism and Neurodevelopmental Disorders.

Annu Rev Genomics Hum Genet 2019 Aug 13;20:359-387. Epub 2019 May 13.

Department of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email:

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http://dx.doi.org/10.1146/annurev-genom-083118-015334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716996PMC
August 2019

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Gene 2014 Apr 13;539(2):279-82. Epub 2014 Feb 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226855PMC
April 2014

Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity.

PLoS Genet 2013 31;9(1):e1003274. Epub 2013 Jan 31.

Department of Pediatrics and Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561089PMC
May 2013

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Am J Med Genet A 2012 Nov 18;158A(11):2788-96. Epub 2012 Sep 18.

Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477270PMC
November 2012

Transgenic overexpression of the transcription factor Nkx6.1 in β-cells of mice does not increase β-cell proliferation, β-cell mass, or improve glucose clearance.

Mol Endocrinol 2011 Nov 29;25(11):1904-14. Epub 2011 Sep 29.

Department of Cellular and Molecular Medicine, The University of California, San Diego, USA.

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http://dx.doi.org/10.1210/me.2011-1010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198960PMC
November 2011

The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells.

Development 2007 Jul 30;134(13):2491-500. Epub 2007 May 30.

Department of Developmental and Cell Biology, University of California at Irvine, 4203 McGaugh Hall, Irvine, CA 92697-2300, USA.

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http://dx.doi.org/10.1242/dev.002691DOI Listing
July 2007