|
| 37267897 | Response to Grosse et al. | Am J Hum Genet | 2023 |
| 37549443 | Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. | Mol Genet Metab | 2023 |
| 36007526 | A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. | Am J Hum Genet | 2022 |
| 36620389 | Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes. | Mol Genet Metab Rep | 2022 |
| 36620386 | Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency. | Mol Genet Metab Rep | 2022 |
| 36245961 | Characterization of a novel exonic deletion in the <i>GALNS</i> gene causing Morquio A syndrome. | Mol Genet Metab Rep | 2022 |
| 35882841 | An automated 13.5â¿¿hour system for scalable diagnosis and acute management guidance for genetic diseases. | Nat Commun | 2022 |
| 34117075 | Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. | Cold Spring Harb Mol Case Stud | 2021 |
| 33683010 | Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy. | Am J Med Genet A | 2021 |
| 33485801 | Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. | Mol Genet Metab | 2021 |
| 33732618 | Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia. | Mol Genet Metab Rep | 2021 |
| 32276663 | 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 Network. | Orphanet J Rare Dis | 2020 |
| 32014857 | Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. | Cold Spring Harb Mol Case Stud | 2020 |
| 33342467 | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. | Mol Genet Metab | 2020 |
| 33473346 | Outcomes of patients with cobalamin C deficiency: A single center experience. | JIMD Rep | 2020 |
| 32154053 | Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. | JIMD Rep | 2020 |
| 30902101 | Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. | Orphanet J Rare Dis | 2019 |
| 30214072 | An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. | Genet Med | 2019 |
| 31387656 | Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. | Can J Neurol Sci | 2019 |
| 31326288 | Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. | Mol Genet Metab | 2019 |
| 31399326 | Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework. | Mol Genet Metab | 2019 |
| 28766179 | Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. | JIMD Rep | 2018 |
| 29875981 | Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. | J Radiol Case Rep | 2018 |
| 30311390 | Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. | Hum Mutat | 2018 |
| 28749475 | Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. | Genet Med | 2017 |
| 29093066 | Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. | Neurology | 2017 |
| 29215644 | Response to Newman et al. | Genet Med | 2017 |
| 26841949 | The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. | Orphanet J Rare Dis | 2016 |
| 26586473 | Glutamine and hyperammonemic crises in patients with urea cycle disorders. | Mol Genet Metab | 2016 |
| 27516098 | Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. | Neuroradiology | 2016 |
| 27312126 | Solid organ transplantation in primary mitochondrial disease: Proceed with caution. | Mol Genet Metab | 2016 |
| 24789515 | Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome. | J Child Neurol | 2015 |
| 26296711 | Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. | Mol Genet Metab | 2015 |
| 26008862 | Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. | Eur J Paediatr Neurol | 2015 |
| 25620204 | A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. | Am J Hum Genet | 2015 |
| 25716610 | Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. | JIMD Rep | 2015 |
| 25533024 | A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria. | Mol Genet Metab | 2015 |
| 25232857 | Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. | Genet Med | 2015 |
| 25266922 | The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | Mol Genet Metab | 2014 |
| 22961727 | Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. | Hepatology | 2013 |
| 24144944 | Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. | Mol Genet Metab | 2013 |
| 23482991 | Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. | Brain | 2013 |
| 23222662 | Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. | Genet Med | 2013 |
| 23322711 | Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. | Am J Med Genet A | 2013 |
| 23065766 | Early-onset LBSL: how severe does it get? | Neuropediatrics | 2012 |
| 23022402 | Design and implementation of the first randomized controlled trial of coenzyme CoQâ¿â¿¿ in children with primary mitochondrial diseases. | Mitochondrion | 2012 |
| 22958974 | Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. | Mol Genet Metab | 2012 |
| 21612962 | Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. | Mol Genet Metab | 2011 |
| 21802329 | Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? | Mol Genet Metab | 2011 |
| 20425834 | A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. | Am J Med Genet A | 2010 |