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List of works by M Stephen Meyn

Attenuated DNA damage responses and increased apoptosis characterize human hematopoietic stem cells exposed to irradiation.

scientific article published on 17 April 2018

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

scientific article published on 03 September 2019

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

scientific article

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

scientific article

Comprehensive Analysis of Hypermutation in Human Cancer

scientific article published on 18 October 2017

DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.

scientific article published on 27 September 2017

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome.

scientific article published on May 2013

Evidence for genetic anticipation in von Hippel-Lindau syndrome

scientific article published on 7 February 2018

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

scientific article published on 26 May 2017

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

scientific article published on 13 March 2013

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

scientific article

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

scientific article

Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?

scientific article published in April 2014

Northern lights assay: a versatile method for comprehensive detection of DNA damage

scientific article published on 01 November 2018

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

scientific article published on 25 November 2016

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

scientific article published on 16 February 2018

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.

scientific article

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

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

scientific article published in February 2018

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

scientific article published on 25 February 2015

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

scientific article published on 07 April 2014

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

scientific article published on 29 November 2018

Visualization and quantitative analysis of extrachromosomal telomere-repeat DNA in individual human cells by Halo-FISH.

scientific article

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

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