List of works - Ashleigh Schaffer

A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels.

scientific article

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

scientific article published on 18 September 2012

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

scientific article

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

scientific article published on 03 November 2020

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

scientific article published on 21 May 2020

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

scientific article published on 16 July 2018

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

scientific article

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

scientific article published on 7 January 2015

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.

scientific article

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

scientific article

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

scientific article published on 13 February 2014

Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish

scientific article published in August 2005

Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas.

scientific article published on February 2011

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

scientific article published on 30 May 2007

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.

scientific article published on 29 September 2011

List of works by Ashleigh Schaffer

A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels.

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

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

Exome sequencing can improve diagnosis and alter patient management

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.

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

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

Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish

Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas.

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

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.