Christian R. Marshall

About Christian R. Marshall

Christian R. Marshall, With an exceptional h-index of 76 and a recent h-index of 59 (since 2020), a distinguished researcher at University of Toronto, specializes in the field of Genomics.

His recent articles reflect a diverse array of research interests and contributions to the field:

P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype

O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis

P477: Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape

P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing

O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases

P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

Christian R. Marshall Information

University

Position

The Hospital for Sick Children

Citations(all)

37244

Citations(since 2020)

15545

Cited By

28116

hIndex(all)

76

hIndex(since 2020)

59

i10Index(all)

191

i10Index(since 2020)

167

Email

University Profile Page

Google Scholar

Christian R. Marshall Skills & Research Interests

Genomics

Top articles of Christian R. Marshall

P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype

Genetics in Medicine Open

2024/1/1

O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

Genetics in Medicine Open

2024/1/1

P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis

Genetics in Medicine Open

2024/1/1

P477: Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape

2024/1/1

P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care

Genetics in Medicine Open

2024/1/1

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing

Genetics in Medicine Open

2024/1/1

O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases

Genetics in Medicine Open

2024/1/1

P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

Genetics in Medicine Open

2024/1/1

Utilization of next generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

Journal of Allergy and Clinical Immunology: Global

2024/4/23

P873:“If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings

Genetics in Medicine Open

2024/1/1

P642: Development and deployment of clinical genome sequencing using a cloud-based platform

Genetics in Medicine Open

2024/1/1

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

2024/3/27

P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape

Genetics in Medicine Open

2024/1/1

P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service

Genetics in Medicine Open

2024/1/1

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A …

Genetics in Medicine

2024/2/1

A study on the incidence and prevalence of 5q spinal muscular atrophy in Canada using multiple data sources

Canadian Journal of Neurological Sciences

2024/1/5

Molecular testing in autism spectrum disorder

2024/1/1

See List of Professors in Christian R. Marshall University(University of Toronto)