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Pediatrics|July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and PhenylketonuriaMichael Pugliese, Kylie Tingley, Andrea Chow, et al.
BMJ Open|February 23, 2022
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort studyAndrea J Chow, Ryan Iverson, Monica Lamoureux, et al.
BMC Pediatrics|January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyRyan Iverson, Monica Taljaard, Michael T Geraghty, et al.
JAMA Network Open|February 16, 2022
Assessment of SARS-CoV-2 Seropositivity During the First and Second Viral Waves in 2020 and 2021 Among Canadian AdultsXuyang Tang, Abha Sharma, Maria Pasic, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research NetworkKylie Tingley, Monica Lamoureux, Michael Pugliese, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff valuesGregg Marquardt, Robert Currier, David M S McHugh, et al.
The World Journal of Men'S Health|January 12, 2022
Post-Vasectomy Semen Analysis: Optimizing Laboratory Procedures and Test Interpretation through a Clinical Audit and Global Survey of PracticesAshok Agarwal, Sajal Gupta, Rakesh K Sharma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative projectDavid M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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