Publications by authors named "Sarah Stephenson"

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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Sarah M Stephenson

medRxiv· November 2025

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Metal lability, sea ice cover, and physicochemical properties of sediments as predictors of benthic communities in Antarctic coastal environments.
Darren J Koppel, Gwilym A V Price, Kathryn E Brown, Catherine K King, Sarah Stephenson

Environ Pollut· July 2025

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International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
Katherine B Howell, Susan M White, Amy McTague, Alissa M D'Gama, Gregory Costain, Sarah E M Stephenson

NPJ Genom Med· February 2025

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The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Matthew Coleman, Min Wang, Penny Snell, Wei Shern Lee, Colleen D'Arcy, Sarah E M Stephenson

Brain Commun· January 2025

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Capture and Protection of Environmental DNA in a Metal-Organic Framework.
Laura I FitzGerald, Erin E Hahn, Mark Wallace, Sarah A Stephenson, Oliver F Berry

Small Sci· December 2024

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Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.
Emma Macdonald-Laurs, Winston Dzau, Aaron E L Warren, Matthew Coleman, Cristina Mignone, Sarah E M Stephenson

Expert Rev Neurother· July 2024

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The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, Simone A Mandelstam, Wei Shern Lee, Sarah E M Stephenson

Brain· April 2024

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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Matthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, Wei Shern Lee, Daniz Kooshavar

Neurol Genet· April 2024

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Orexin 2 receptor antagonism sex-dependently improves sleep/wakefulness and cognitive performance in tau transgenic mice.
Ryan J Keenan, Heather Daykin, Jeremy Metha, Linda Cornthwaite-Duncan, David K Wright, Sarah Stephenson

Br J Pharmacol· January 2024

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Pathogenic Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in or .
Wei Shern Lee, Emma Macdonald-Laurs, Sarah Stephenson, Colleen D'Arcy, Wirginia Maixner

Neurology· July 2023

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Multiple-biomarkers show the importance of blue carbon to commercially important fishery species.
Daniel Gorman, David J Beale, Joey Crosswell, Sarah A Stephenson, Rohan M Shah

Sci Total Environ· July 2023

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Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
Wei Shern Lee, Emma Macdonald-Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor

Epilepsia Open· March 2023

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Transcriptomic and Histological Analysis of the Greentail Prawn (Metapenaeus bennettae) Following Light Crude Oil Exposure.
Emily K Armstrong, Julie Mondon, Adam D Miller, Andrew T Revill, Sarah A Stephenson

Environ Toxicol Chem· September 2022

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Barriers and facilitators to primary care research: views of GP trainees and trainers.
Sarah Stephenson, Eugene Yee Hing Tang, Eugene Tang, Penny Williams, Hilary Allan

BJGP Open· June 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen

Am J Hum Genet· April 2022

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Towards reproducible metabarcoding data: Lessons from an international cross-laboratory experiment.
Anastasija Zaiko, Paul Greenfield, Cathryn Abbott, Ulla von Ammon, Jaret Bilewitch, Sarah Stephenson

Mol Ecol Resour· February 2022

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Omics-based ecosurveillance uncovers the influence of estuarine macrophytes on sediment microbial function and metabolic redundancy in a tropical ecosystem.
Rohan M Shah, Sarah Stephenson, Joseph Crosswell, Daniel Gorman, Katie E Hillyer

Sci Total Environ· February 2022

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Wei Shern Lee, Sara Baldassari, Sarah E M Stephenson, Paul J Lockhart, Stéphanie Baulac

Int J Mol Sci· January 2022

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Functional analysis of pristine estuarine marine sediments.
Rohan M Shah, Katie E Hillyer, Sarah Stephenson, Joseph Crosswell, Avinash V Karpe

Sci Total Environ· August 2021

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Mini Review: Current Trends and Understanding of Exosome Therapeutic Potential in Corneal Diseases.
Anil Tiwari, Aastha Singh, Sudhir Verma, Sarah Stephenson, Tuhin Bhowmick

Front Pharmacol· August 2021

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Metabarcoding Reveals Changes in Benthic Eukaryote and Prokaryote Community Composition along a Tropical Marine Sediment Nickel Gradient.
Megan L Gillmore, Lisa A Golding, Anthony A Chariton, Jenny L Stauber, Sarah Stephenson

Environ Toxicol Chem· July 2021

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Resection of tuber centers only for seizure control in tuberous sclerosis complex.
Sarah E M Stephenson, Wirginia J Maixner, Sarah M Barton, Colleen D'Arcy, Simone A Mandelstam

Epilepsy Res· March 2021

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Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle-Biassette, Sarah E M Stephenson

Ann Clin Transl Neurol· February 2021

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Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Wei Shern Lee, Sarah E M Stephenson, Kate Pope, Greta Gillies, Wirginia Maixner

Neurology· November 2020

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Pericytes as novel targets for HIV/SIV infection in the lung.
Sarah E Stephenson, Carole L Wilson, Nell G Bond, Amitinder Kaur, Xavier Alvarez

Am J Physiol Lung Cell Mol Physiol· November 2020

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