Publications by authors named "Nicholas Mew"

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Two commonly reported incidental variants in OTC are associated with late-onset disease.
Steven H Lang, Russell S Lo, Gareth A Cromie, Aimée M Dudley, Nicholas Ah Mew

HGG Adv· October 2025

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Deep learning finds convergent melanocytic morphology despite noisy archival slides.
Mikio Tada, Garrett Gaskins, Sina Ghandian, Nicholas Mew, Michael James Keiser

Cell Rep Methods· October 2025

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Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko, Nicholas Ah Mew

medRxiv· June 2025

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Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Udeme D Ekong, Sahithi Reddy, Nada Yazigi, Khalid Khan, Stuart Kaufman, Nicholas Ah Mew

Liver Transpl· December 2022

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Deep learning from multiple experts improves identification of amyloid neuropathologies.
Daniel R Wong, Ziqi Tang, Nicholas C Mew, Sakshi Das, Justin Athey

Acta Neuropathol Commun· April 2022

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Correction to: 1-C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, Jennifer L Sloan, Jack Gagné, Nicholas Ah Mew

Genet Med· November 2021

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1-C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, Jennifer L Sloan, Jack Gagné, Nicholas Ah Mew

Genet Med· August 2021

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Adding Stochastic Negative Examples into Machine Learning Improves Molecular Bioactivity Prediction.
Elena L Cáceres, Nicholas C Mew, Michael J Keiser

J Chem Inf Model· December 2020

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Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
Rupesh Raina, Jirair K Bedoyan, Uta Lichter-Konecki, Philippe Jouvet, Stefano Picca, Nicholas Ah Mew

Nat Rev Nephrol· August 2020

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How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.
Sarah Viall, Amy Calhoun, Nicholas Ah Mew, Beth A Tarini

Am J Med Genet A· July 2020

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Roland Posset, Sven F Garbade, Nikolas Boy, Alberto B Burlina, Carlo Dionisi-Vici, Nicholas Ah Mew

J Inherit Metab Dis· January 2019

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Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Marshall L Summar, Nicholas Ah Mew

Pediatr Clin North Am· April 2018

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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Xia Wang, Wu-Lin Charng, Chun-An Chen, Jill A Rosenfeld, Aisha Al Shamsi, Nicholas Ah Mew

Nat Genet· April 2017

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Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.
Nicholas Ah Mew, Sarah Viall, Brian Kirmse, Kimberly A Chapman

Adv Neonatal Care· August 2015

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Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.
Nicholas Ah Mew, Marc Yudkoff, Mendel Tuchman

J Pediatr Biochem· January 2014

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