[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 …

[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

AC Lionel, G Costain, N Monfared, S Walker… - Genetics in …, 2018 - nature.com
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
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…

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

…, P Pasceri, J Ellis, P Ray, MS Meyn, N Monfared… - Cmaj, 2018 - Can Med Assoc
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
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 …

[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 …

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

…, J Bhawra, K Tsiplova, MS Meyn, N Monfared… - European Journal of …, 2017 - nature.com
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 …

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 …

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 …

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, …