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Orphanet Journal of Rare Diseases|January 16, 2020
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a reviewMichael Pugliese, Kylie Tingley, Andrea Chow, et al.
Pediatrics|July 16, 2021
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and PhenylketonuriaMichael Pugliese, Kylie Tingley, Andrea Chow, 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.
Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, 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.
The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSAndré B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.
American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.
Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.
Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.
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