Alison Eaton

<i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon et al. · Annals of Neurology · 2019 · 72 citations · Full text

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 66 citations · Full text

Equivalent pore estimate for the alveolar-airway barrier in isolated dog lung

Robert L. Conhaim, Alison Eaton, Norman C. Staub et al. · Journal of Applied Physiology · 1988 · 53 citations

Acute Lung Injury, Interstitial Tracer Concentrations, Inflammatory Lung Disease +19

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Melissa T. Carter, Myriam Srour, Ping-Yee Billie Au et al. · Journal of Medical Genetics · 2023 · 53 citations · Full text

Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Marieke M van der Knoop, Reza Maroofian, Yuko Fukata et al. · Brain · 2022 · 41 citations · Full text