Publications by authors named "Graham Sinclair"

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Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement.
Sarah E Lawrence, Janet Marcadier, Sheila Auger, Erika Bariciak, Pranesh Chakraborty, Graham Sinclair

J Endocr Soc· January 2026

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Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.
Xiao Li, Mehdi Yeganeh, Graham Sinclair, Jill Mwenifumbo, Karen J Jacob

NPJ Genom Med· September 2025

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Validity and Reliability of the V-Cut Dribbling Test in Young Basketball Players.
Anna Jòdar-Portas, Víctor López-Ros, Anna Prats-Puig, José V Beltran-Garrido, Marc Madruga-Parera, Graham Sinclair

Int J Sports Physiol Perform· June 2023

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Erratum for Nikiforuk et al., "Performance of Immunoglobulin G Serology on Finger Prick Capillary Dried Blood Spot Samples to Detect a SARS-CoV-2 Antibody Response".
Aidan M Nikiforuk, Brynn McMillan, Sofia R Bartlett, Ana Citlali Márquez, Tamara Pidduck, Graham Sinclair

Microbiol Spectr· October 2022

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A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.
Joshua A Dubland, Graham Sinclair, Hilary Vallance, Bojana Rakić

Clin Biochem· July 2022

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Interference of ketone bodies on laboratory creatinine measurement in children with DKA: a call for change in testing practices.
Damian Feldman-Kiss, Dailin Li, Richard Cleve, Graham Sinclair, Joshua A Dubland

Pediatr Nephrol· June 2022

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Performance of Immunoglobulin G Serology on Finger Prick Capillary Dried Blood Spot Samples to Detect a SARS-CoV-2 Antibody Response.
Aidan M Nikiforuk, Brynn McMillan, Sofia R Bartlett, Ana Citlali Márquez, Tamara Pidduck, Graham Sinclair

Microbiol Spectr· April 2022

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Maternal vitamin B status in early pregnancy and its association with birth outcomes in Canadian mother-newborn Dyads.
Amy Tan, Graham Sinclair, Andre Mattman, Hilary D Vallance, Yvonne Lamers

Br J Nutr· December 2021

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Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.
Hilary Vallance, Graham Sinclair, Bojana Rakic, Sylvia Stockler-Ipsiroglu

Paediatr Child Health· October 2021

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Investigating oxythiamine levels in children undergoing kidney transplantation and the risk of immediate post-operative metabolic and hemodynamic decompensation.
Or Golan, Roger Dyer, Graham Sinclair, Tom Blydt-Hansen

Pediatr Nephrol· April 2021

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Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach.
Joshua A Dubland, Bojana Rakić, Hilary Vallance, Graham Sinclair

J Mass Spectrom Adv Clin Lab· April 2021

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A Pedagogical Approach to Integrative Neuromuscular Training to Improve Motor Competence in Children: A Randomized Controlled Trail.
Raquel Font-Lladó, Víctor López-Ros, Alicia M Montalvo, Graham Sinclair, Anna Prats-Puig

J Strength Cond Res· November 2020

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A Visit with Dr. Louis Woolf, Recognizing His 100th Birthday and His Contributions to the Diagnosis and Treatment of Phenylketonuria.
R Rodney Howell, Graham Sinclair

Int J Neonatal Screen· June 2020

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Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Graham Sinclair, Vanessa McMahon, Amy Schellenberg, Tanya N Nelson, Mark Chilvers

Int J Neonatal Screen· June 2020

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Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia.
Danya A Fox, Rebecca Ronsley, Asif R Khowaja, Alon Haim, Hilary Vallance, Graham Sinclair

J Pediatr· May 2020

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Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity.
Maria F Mujica-Coopman, Amy Tan, Theresa H Schroder, Graham Sinclair, Hilary D Vallance

J Nutr· December 2019

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Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy.
Theresa H Schroder, Amy Tan, Andre Mattman, Graham Sinclair, Susan I Barr

Clin Chem Lab Med· October 2019

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Acute Shoshin beriberi syndrome immediately post-kidney transplant with rapid recovery after thiamine administration.
Isaac M Elias, Graham Sinclair, Tom D Blydt-Hansen

Pediatr Transplant· August 2019

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Atypical cerebral palsy: genomics analysis enables precision medicine.
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Graham Sinclair

Genet Med· July 2019

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The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation.
Graham Sinclair, Sorcha Collins, Laura Arbour, Hilary Vallance

Paediatr Child Health· May 2019

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Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Momen Almomen, Graham Sinclair, Sylvia G Stockler-Ipsiroglu, Gabriella A Horvath

Neuropediatrics· December 2018

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Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.
Theresa H Schroder, Graham Sinclair, Andre Mattman, Benjamin Jung, Susan I Barr

Br J Nutr· September 2017

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A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman

Am J Med Genet A· March 2017

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Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo mutation.
Stephanie C Bourne, Katelin N Townsend, Casper Shyr, Allison Matthews, Scott A Lear, Graham Sinclair

Cold Spring Harb Mol Case Stud· January 2017

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Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Graham Sinclair

N Engl J Med· June 2016

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