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Current Opinion in Genetics & Development|February 9, 2025
Exploring the connection between RNA splicing and intellectual disabilityAnthony Caputo, Ashleigh E Schaffer
Annual Review of Genomics and Human Genetics|May 15, 2019
tRNA Metabolism and Neurodevelopmental DisordersAshleigh E Schaffer, Otis Pinkard, Jeffery M Coller
Wiley Interdisciplinary Reviews. RNA|September 20, 2022
mRNA isoform balance in neuronal development and diseaseGeneva R LaForce, Polyxeni Philippidou, Ashleigh E Schaffer
Development (Cambridge, England)|June 1, 2007
The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cellsShelley B Nelson, Ashleigh E Schaffer, Maike Sander
Developmental Cell|July 15, 2010
Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitorsAshleigh E Schaffer, Kristine K Freude, Shelley B Nelson, et al.
Molecular Endocrinology (Baltimore, Md.)|October 4, 2011
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 clearanceAshleigh E Schaffer, Almira J Yang, Fabrizio Thorel, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2024
Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALSDaniel Chen, Polyxeni Philippidou, Bianca de Freitas Brenha, et al.
Pharmacological Research|August 31, 2024
Pharmacological chaperones restore proteostasis of epilepsy-associated GABA<sub>A</sub> receptor variantsYa-Juan Wang, Hailey Seibert, Lucie Y Ahn, et al.
Gene|February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephalySamira Ismail, Ashleigh E Schaffer, Rasim O Rosti, et al.
Biorxiv : the Preprint Server for Biology|May 3, 2023
Pharmacological chaperones restore proteostasis of epilepsy-associated GABA<sub>A</sub> receptor variantsYa-Juan Wang, Hailey Seibert, Lucie Y Ahn, et al.
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