Elizabeth Spriggs
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View article: Correspondence on “Mainstreaming of clinical genetic testing: a conceptual framework” by Mackley et al
Correspondence on “Mainstreaming of clinical genetic testing: a conceptual framework” by Mackley et al Open
View article: Table of Contents
Table of Contents Open
View article: Practice guidelines for <i>BRCA1/2</i> tumour testing in ovarian cancer
Practice guidelines for <i>BRCA1/2</i> tumour testing in ovarian cancer Open
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based BRCA1…
View article: Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the <i>SLC17A5</i> gene
Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the <i>SLC17A5</i> gene Open
Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage disease…
View article: Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository Open
Background This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing …
View article: Isolated sulfite oxidase deficiency: a founder mutation
Isolated sulfite oxidase deficiency: a founder mutation Open
Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosu…
View article: Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease
Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease Open
Our results revealed new genomic loci associated with IBD, which suggested the role of rare CNVs in IBD risk.
View article: Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Open
View article: Proffered papers and posters presented at the Sixth International Symposium on Hereditary Breast and Ovarian Cancer—BRCA: Challenges and Opportunities : Presented by the Hereditary Breast and Ovarian Cancer Foundation in collaboration with the Program in Cancer Genetics, McGill University; Centre Mont-Royal, Montreal, QC; 10–13 May 2016
Proffered papers and posters presented at the Sixth International Symposium on Hereditary Breast and Ovarian Cancer—BRCA: Challenges and Opportunities : Presented by the Hereditary Breast and Ovarian Cancer Foundation in collaboration with the Program in Cancer Genetics, McGill University; Centre Mont-Royal, Montreal, QC; 10–13 May 2016 Open
View article: Development of a diagnostic <scp>DNA</scp> chip to screen for 30 autosomal recessive disorders in the Hutterite population
Development of a diagnostic <span>DNA</span> chip to screen for 30 autosomal recessive disorders in the Hutterite population Open
Background The Hutterites are a religious isolate living in colonies across the North American prairies. This population originated from approximately 90 founders, resulting in a number of genetic diseases that are overrepresented, underre…
View article: PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication
PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication Open
The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from d…