Schaffer, Ashleigh E.

Top Publications

Top Publications Authored or Co-Authored by "Schaffer, Ashleigh E."

• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  Science Translational Medicine, Volume 4, No. 138, Article 138ra78, Year 2012, Citations 267
• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

  Nature Genetics, Volume 47, No. 5, Year 2015, Citations 113
• Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

  Neuron, Volume 84, No. 6, Year 2014, Citations 94
• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Nature Genetics, Volume 49, No. 3, Year 2017, Citations 66
• A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

  American Journal of Medical Genetics, Part A, Volume 158 A, No. 11, Year 2012, Citations 39