[HTML][HTML] Recommendations for the integration of genomics into clinical practice
…, C Marshall, L Medne, MS Meyn, N Monfared… - Genetics in …, 2016 - nature.com
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing
the scope of practice for clinical geneticists. Many large institutions are making a significant …
the scope of practice for clinical geneticists. Many large institutions are making a significant …
[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
[HTML][HTML] Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
…, D Merico, R Jobling, S Bowdin, N Monfared… - NPJ genomic …, 2016 - nature.com
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …
resource that integrates whole genome sequencing data and health information. We describe …
[HTML][HTML] Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
…, DJ Stavropoulos, PN Ray, N Monfared… - npj Genomic …, 2017 - nature.com
Whole-genome sequencing and whole-exome sequencing have proven valuable for
diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a …
diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a …
[HTML][HTML] Genetic variation in healthy oldest-old
J Halaschek-Wiener, M Amirabbasi-Beik, N Monfared… - PloS one, 2009 - journals.plos.org
Individuals who live to 85 and beyond without developing major age-related diseases may
achieve this, in part, by lacking disease susceptibility factors, or by possessing resistance …
achieve this, in part, by lacking disease susceptibility factors, or by possessing resistance …
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray
The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical
management. The study aimed to describe the type and cost of healthcare activities following …
management. The study aimed to describe the type and cost of healthcare activities following …
MED23‐associated refractory epilepsy successfully treated with the ketogenic diet
AC Lionel, N Monfared, SW Scherer… - American Journal of …, 2016 - Wiley Online Library
We report a new patient with refractory epilepsy associated with a novel pathogenic
homozygous MED23 variant. This 7.5‐year‐old boy from consanguineous parents had infantile …
homozygous MED23 variant. This 7.5‐year‐old boy from consanguineous parents had infantile …
BCAP31‐associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy
S Albanyan, A Al Teneiji, N Monfared… - American Journal of …, 2017 - Wiley Online Library
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the
endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental …
endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental …
Predictive genomic testing of children for adult onset disorders: a Canadian perspective
…, R Hayeems, C Shuman, N Monfared… - The American Journal …, 2014 - Taylor & Francis
The American Academy of Pediatrics (AAP)/American College of Medical Genetics (ACMG)
guidelines discourage predictive genetic testing of children at risk for adult-onset diseases, …
guidelines discourage predictive genetic testing of children at risk for adult-onset diseases, …