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Journals and Conferences
Sex differences in susceptibility and progression have been reported in numerous diseases. Female cells have two copies of the X chromosome with X-chromosome inactivation imparting mono-allelic gene silencing for dosage compensation. However, a subset of genes, named escapees, escape silencing and are transcribed bi-allelically resulting in sexual… (More)
Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood hypoglycemia. Transient elevation of alanine transaminase, lactate and tricarboxylic acid cycle intermediates, especially fumarate, were noticed in urine organic acid analysis. Exome sequencing was performed… (More)
We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de novo SCN2A splice-site mutation (c.2379+1G>A, p.Glu717Gly.fs*30) resulting in deletion of exon 14, in a 10-year old male with early onset global developmental… (More)
The thyroid uptake of radioactive iodine after scintillation camera studies using -131I-labeled hippuran was studied and the radiation dose calculated in 30 euthyroid children with normal renal function. Fifteen children received Lugol's solution which reduced the thyroid uptake and radiation dose significantly.
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while a chromosome microarray identified a 1.73 Mb paternally… (More)
1 Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada 2 Graduate Program in Bioinformatics, University of British Columbia, Vancouver, British Columbia, Canada 3 RIKEN Omics Science Center, Yokohama, Japan 4 RIKEN Center for Life Science Technologies,… (More)
PurposeWe analyzed the Exome Aggregation Consortium (ExAC) data set for the presence of individuals with pathogenic genotypes implicated in Mendelian pediatric disorders.MethodsClinVar likely/pathogenic variants supported by at least one peer-reviewed publication were assessed within the ExAC database to identify individuals expected to exhibit a childhood… (More)
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.
The development of an abdominal mass after urinary diversion in a patient with a ventriculoperitoneal shunt should alert the physician to the possibility of a cerebrospinal fluid pseudocyst. Two pediatric cases of cerebrospinal fluid pseudocysts are presented to illustrate this complication. The etiology, diagnosis and management of the pseudocyst are… (More)