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Christian Marshall

Clinical Laboratory Director

Hospital for Sick Children

Canada

Research Interests

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Professors in Canada

Articles (20)

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Collaborators (41)

Oliver Hofmann

Associate Professor

University of Melbourne

AUSTRALIA

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Alexander Ploner

Karolinska Institutet

SWEDEN

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Marcus Breese

Indiana University School of Medicine

UNITED STATES

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Raymond H. Kim

University Health Network

CANADA

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Mark Yarborough

Dean's Professor of Bioethics

University of California Davis School of Medicine

UNITED STATES

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Naomi Allen

University of Oxford

UNITED KINGDOM

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Elena Tenconi

Assistant professor

University of Padova

ITALY

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Stephen Kingsmore

Chair

Cleveland Clinic

UNITED STATES

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Linlea Armstrong

Clinical Associate Professor

The University of British Columbia

CANADA

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Martin Kennedy

Professor

University of Otago

NEW ZEALAND

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Dalila Pinto

Associate Professor with Tenure

Icahn School of Medicine at Mount Sinai

UNITED STATES

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Zornitza Stark

Clinical Geneticist

Murdoch Childrens Research Institute - Victorian Clinical Genetics Services Ltd

AUSTRALIA

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Maria Chiara Scaini

Istituto Oncologico Veneto Istituto di Ricovero e Cura a Carattere Scientifico

ITALY

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Peter Rogan

Western University

CANADA

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Julie Harris-Wai

Professor

University of California, San Francisco

UNITED STATES

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Jakob Grove

Professor

Aarhus University

DENMARK

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Alice Man

McMaster University

CANADA

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Matthew Mort

Cardiff University

UNITED KINGDOM

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Robin Hayeems

Senior Scientist

Hospital for Sick Children

CANADA

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Francesco Benedicenti

ITALY

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Bekim Sadikovic

Western University

CANADA

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Xiaoming Liu

Associate Professor

University of South Florida

UNITED STATES

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Jacqueline Limoges

Professor

Athabasca University

CANADA

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Sarah Stephenson

Epilepsy Laboratory Head

Murdoch Childrens Research Institute

AUSTRALIA

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Vaidehi Jobanputra

Columbia University Irving Medical Center

UNITED STATES

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William K.K Wu

Professor (Non-clinical)

The Chinese University of Hong Kong (CUHK)

CHINA

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Wendy Ungar

Senior Scientist

Hospital for Sick Children

CANADA

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Amy McTague

University College London

UNITED KINGDOM

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Ryan Taft

Chief Scientific Officer

UNITED STATES

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Gyu Rie Lee

Research Specialist 1

Howard Hughes Medical Institute

UNITED STATES

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Lukas Folkman

Lecturer in Information Technology

Southern Cross University

AUSTRALIA

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Andreas Birgegård

Karolinska Institutet

SWEDEN

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Vsevolod Makeev

Team lead

Cancer Research UK Manchester Institute

UNITED KINGDOM

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Youjin Oh

Assistant Professor

University of Alberta

CANADA

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Martien Kas

Scientific Staff, Professor

Rijksuniversiteit Groningen

NETHERLANDS

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Jan Friedman

Professor

The University of British Columbia

CANADA

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Gregory Costain

Hospital for Sick Children

CANADA

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Stefan Ehrlich

Technische Universität Dresden

GERMANY

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Anu Raevuori

University of Helsinki

FINLAND

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Tracey Wade

Matthew Flinders Distinguished Professor

Flinders University

AUSTRALIA

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Kathryn North

Group Leader, Neuromuscular Research; Chief Investigator, Australian Genomic Health Alliance

Murdoch Childrens Research Institute

AUSTRALIA

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Christian Marshall

Research Interests

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Articles (20)

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis

Reclassification of missense variant pathogenicity using ClinGen recommendations for recalibrated PP3/BP4 in silico predictor score thresholds

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist

Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa

A call to action to scale up research and clinical genomic data sharing

Mainstreaming of clinical genetic testing

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Diagnosis of TET3-Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature

Genome sequencing reveals novel <i>IKBKG</i> structural variants associated with incontinentia pigmenti

The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services

What are patient perspectives on privacy and trust in digital genomic tools? A qualitative study

Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

The evolution of health data ecosystems: An international survey

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

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

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources,Étude sur l’incidence et la prévalence de l’amyotrophie spinale liée au chromosome 5q [AS 5q] au Canada, fondée sur différentes sources de données

Collaborators (41)

Oliver Hofmann

Alexander Ploner

Marcus Breese

Raymond H. Kim

Mark Yarborough

Naomi Allen

Elena Tenconi

Stephen Kingsmore

Linlea Armstrong

Martin Kennedy

Dalila Pinto

Zornitza Stark

Maria Chiara Scaini

Peter Rogan

Julie Harris-Wai

Jakob Grove

Alice Man

Matthew Mort

Robin Hayeems

Francesco Benedicenti

Bekim Sadikovic

Xiaoming Liu

Jacqueline Limoges

Sarah Stephenson

Vaidehi Jobanputra

William K.K Wu

Wendy Ungar

Amy McTague

Ryan Taft

Gyu Rie Lee

Lukas Folkman

Andreas Birgegård

Vsevolod Makeev

Youjin Oh

Martien Kas

Jan Friedman

Gregory Costain

Stefan Ehrlich

Anu Raevuori

Tracey Wade

Kathryn North

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