about
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome.The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.Recommendations for the integration of genomics into clinical practiceThe SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.Visualization and quantitative analysis of extrachromosomal telomere-repeat DNA in individual human cells by Halo-FISH.Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.Comprehensive Analysis of Hypermutation in Human Cancer.Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.Evidence for genetic anticipation in von Hippel-Lindau syndrome.Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?Attenuated DNA damage responses and increased apoptosis characterize human hematopoietic stem cells exposed to irradiation.Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatricsNorthern lights assay: a versatile method for comprehensive detection of DNA damageCAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
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description
researcher ORCID ID = 0000-0001-6444-2607
@en
wetenschapper
@nl
name
M Stephen Meyn
@ast
M Stephen Meyn
@en
M Stephen Meyn
@nl
type
label
M Stephen Meyn
@ast
M Stephen Meyn
@en
M Stephen Meyn
@nl
prefLabel
M Stephen Meyn
@ast
M Stephen Meyn
@en
M Stephen Meyn
@nl
P31
P496
0000-0001-6444-2607