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Ashleigh E. Schaffer | doi.page

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Ashleigh E. Schaffer

Oregon Health & Science University(US)Case Western Reserve University(US)

Publications by Year

Research Areas

RNA Research and Splicing, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Pancreatic function and diabetes, Endoplasmic Reticulum Stress and Disease

Most-Cited Works

→ Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas(2011)469 cited
→ Nkx6 Transcription Factors and Ptf1a Function as Antagonistic Lineage Determinants in Multipotent Pancreatic Progenitors(2010)281 cited
→ CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration(2014)280 cited
→ Exome Sequencing Can Improve Diagnosis and Alter Patient Management(2012)257 cited
→ Nkx6.1 Controls a Gene Regulatory Network Required for Establishing and Maintaining Pancreatic Beta Cell Identity(2013)250 cited
→ Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited

→ The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells(2007)

125 cited

→ An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development(2015)124 cited

→ Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors(2014)112 cited

→ Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing(2017)100 cited