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Neal Sondheimer

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Medical Director

Children's Hospital of Eastern Ontario

Canada

Research Interests

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Professors in Canada Professors in Medical Science Medical Science professors in Canada

Recent Grants

Grant: Open

CanScreenT1D – the Canada-wide T1D Screening Research Consortium

Open Date: 2023-04-01

Close Date: 2028-03-01

Articles (10)

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2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2022

Collaborators (14)

Cheryl Rockman-Greenberg

Medical/Metabolic Geneticist

Shared Health Manitoba

CANADA

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Jerry Vockley

Professor and Chief of Medical Genetics

University of Pittsburgh

UNITED STATES

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Andreas Schulze

Professor

University of Toronto

CANADA

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Nikolaos Marinakis

Assistant Professor of Genetics

Democritus University of Thrace

GREECE

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Tarekegn Geberhiwot

UNITED KINGDOM

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Tugce Balci

Assistant Professor

Western University

CANADA

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Dorothy K. Grange

UNITED STATES

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Theresa Brunet

GERMANY

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Ryan Yuen

Scientist

Hospital for Sick Children

CANADA

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Matias Wagner

Technical University of Munich

GERMANY

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Cary Harding

Professor

Oregon Health & Science University

UNITED STATES

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Patricia Dickson

Professor

Washington University in St. Louis

UNITED STATES

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Aizeddin Mhanni

Professor

University of Manitoba

CANADA

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Mariko Nakano-Okuno

Associate Professor

Hokkaido University

JAPAN

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Neal Sondheimer

Research Interests

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Recent Grants

Articles (10)

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia

A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Collaborators (14)

Cheryl Rockman-Greenberg

Jerry Vockley

Andreas Schulze

Nikolaos Marinakis

Tarekegn Geberhiwot

Tugce Balci

Dorothy K. Grange

Theresa Brunet

Ryan Yuen

Matias Wagner

Cary Harding

Patricia Dickson

Aizeddin Mhanni

Mariko Nakano-Okuno

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