User profiles for Robin Z. Hayeems
Robin HayeemsChild Health Evaluative Sciences, Hospital for Sick Children (SickKids) Verified email at sickkids.ca Cited by 3397 |
[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
…, C Shuman, C Carew, MJ Szego, RZ Hayeems… - 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 …
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
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…
[HTML][HTML] Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care
FA Miller, RZ Hayeems, JP Bytautas… - European Journal of …, 2014 - nature.com
Developments in genomics, including next-generation sequencing technologies, are expected
to enable a more personalized approach to clinical care, with improved risk stratification …
to enable a more personalized approach to clinical care, with improved risk stratification …
Health system strategies supporting transition to adult care
Background The transition from paediatric to adult care is associated with poor clinical
outcomes, increased costs and low patient and family satisfaction. However, little is known about …
outcomes, increased costs and low patient and family satisfaction. However, little is known about …
Genome sequencing as a diagnostic test in children with unexplained medical complexity
Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …
pediatric health care system, with high resource use and associated health care costs. A …
[PDF][PDF] Trio RNA sequencing in a cohort of medically complex children
Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders.
Although GS can enumerate most non-coding variation, determining which non-coding variants …
Although GS can enumerate most non-coding variation, determining which non-coding variants …
[HTML][HTML] The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
…, S Bowdin, I Cohn, M Curtis, P Dhir, RZ Hayeems… - Genetics in …, 2020 - Elsevier
Purpose This study investigated the diagnostic utility of nontargeted genomic testing in
patients with pediatric heart disease. Methods We analyzed genome sequencing data of 111 …
patients with pediatric heart disease. Methods We analyzed genome sequencing data of 111 …
How patients experience progressive loss of visual function: a model of adjustment using qualitative methods
RZ Hayeems, G Geller, D Finkelstein… - British Journal of …, 2005 - bjo.bmj.com
Background: People with retinitis pigmentosa (RP) experience functional and psychological
challenges as they adjust to progressive loss of visual function. The authors aimed to …
challenges as they adjust to progressive loss of visual function. The authors aimed to …
[HTML][HTML] Clinical utility of genomic sequencing: a measurement toolkit
Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies
for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic …
for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic …
[PDF][PDF] Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
…, S Walker, K Amburgey, RZ Hayeems… - The American Journal of …, 2022 - cell.com
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities
of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7…
of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7…