Rebecca Macintosh

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell et al. · Cell · 2018 · 144 citations · Full text

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

Rohit G. Saldanha, Katherine R. Balka, Sophia Davidson et al. · Frontiers in Immunology · 2018 · 111 citations · Full text

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha et al. · Molecular Genetics & Genomic Medicine · 2018 · 109 citations · Full text

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

Elizabeth E. Palmer, Rani Sachdev, Rebecca Macintosh et al. · Neurology · 2021 · 92 citations

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

Elizabeth E. Palmer, Jaclyn N. Hayner, Rani Sachdev et al. · Molecular Genetics and Metabolism · 2015 · 52 citations · Full text

Developmental Biology, Cell Division, Pathogenesis +5