Faculty profile

Neal Sondheimer

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Associate ProfessorDepartment of PaediatricsUniversity of Toronto

Neal Sondheimer

Associate Professor

Department of Paediatrics

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
11 publications in the last five years, latest in 2026.
Senior (last) author on 2 recent papers, a sign of leading a research group.

These signals come from public records, including federal and provincial funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

1,408

Citations

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

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Signals and details

Research

Read how they describe their research on their University of Toronto profile.

Latest papers

DNM1L depletion leads to accelerated heteroplasmy shifting of m.10191C allele through ATG7-dependent pathways.
Mitochondrion · 2026 · senior author
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature · 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Nature Genetics · 2024

All 34 publications

Latest funding

An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
CIHR · 2019 · Co-investigator
$2,754,009
The role of mitochondrial dysfunction in neurotransmission: Implications for bipolar disorder
CIHR · 2018 · Co-investigator
$1,109,250

All 2 grants and awards

34 publications.

DNM1L depletion leads to accelerated heteroplasmy shifting of m.10191C allele through ATG7-dependent pathways.

Geng M, Wang D, Kavoosi S, Kaufman BA, Sondheimer N

Mitochondrion2026Senior author

DOI: 10.1016/j.mito.2026.102185 PMID: 42364885

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

Koeberl D, Schulze A, Sondheimer N, Lipshutz GS, Geberhiwot T, Li L, Saini R, Luo J, Sikirica V, Jin L, Liang M, Leuchars M, Grunewald S

Nature2024136 citationsOpen Access

DOI: 10.1038/s41586-024-07266-7 PMID: 38570682

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

Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S

Nature Genetics202450 citations

DOI: 10.1038/s41588-024-01686-x

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

Koeberl D, Schulze A, Sondheimer N, Lipshutz GS, Geberhiwot T, Li L, Saini R, Luo J, Sikirica V, Jin L, Liang M, Leuchars M, Grunewald S

Nature20248 citationsOpen Access

DOI: 10.1038/s41586-024-07646-z PMID: 38844679

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

Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C

BMC Pediatrics20244 citationsOpen Access

DOI: 10.1186/s12887-023-04393-4 PMID: W4390840255

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

Koeberl D, Schulze A, Sondheimer N, Lipshutz GS, Geberhiwot T, Li L, Saini R, Luo J, Sikirica V, Jin L, Liang M, Leuchars M, Grunewald S

Nature20241 citationsOpen Access

DOI: 10.1038/s41586-024-07413-0 PMID: 38649490

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

Zmajkovicova K, Pawar S, Sharapova SO, Geier CB, Wiest I, Nguyen C, Monticelli H, Maier-Munsa S, Chen K, Sleasman JW, Aleshkevich S, Polyakova E, Sakovich I, Warnatz K, Grimbacher B, Proietti M, Sondheimer N, Ujhazi B, Gordon S, Ellison M, Yilmaz M, Walter JE, Badarau A, Taveras AG, Neff JL, Bledsoe JR, Tarrant TK

Blood advances2024

DOI: 10.1182/bloodadvances.2023011875 PMID: 38768429

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

Neal J. Sondheimer, Alberto Alemán, Jessie M. Cameron, Hernan Dario Gonorazky, Nadeen B. Sabha, Paula A. Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael E. Shy, James J. Dowling

Human Genetics and Genomics Advances20233 citationsFirst authorOpen Access

DOI: 10.1016/j.xhgg.2023.100182 PMID: 36845668

Corrigendum to Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth [The Journal of Pediatrics 194(2018):40-46.e4].

Crawford N, Prendergast D, Oehlert JW, Shaw GM, Stevenson DK, Rappaport N, Sirota M, Tishkoff SA, Sondheimer N

The Journal of pediatrics2023Senior author

DOI: 10.1016/j.jpeds.2023.01.017 PMID: 37495478

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J

Cell2022303 citationsOpen Access

DOI: 10.1016/j.cell.2022.10.009

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Neal Sondheimer

Research

Latest papers

Latest funding

DNM1L depletion leads to accelerated heteroplasmy shifting of m.10191C allele through ATG7-dependent pathways.

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

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

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

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

Author Correction: 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.

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

Corrigendum to Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth [The Journal of Pediatrics 194(2018):40-46.e4].

Genomic architecture of autism from comprehensive whole-genome sequence annotation

An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases

The role of mitochondrial dysfunction in neurotransmission: Implications for bipolar disorder

Frequent collaborators

Andreas Schulze

Stephen Scherer

Greg Costain

Christian Marshall

Gregory Costain

Michal Inbar-Feigenberg

Komudi Siriwardena

Michael Geraghty

Grace Yoon

Rosanna Weksberg

Ryan Yuen

Brett Trost

Pranesh Chakraborty

James Dowling

Roberto Mendoza-Londono

Bruno Maranda

Julian Little

Murray Alexander Potter

Mariya Kozenko

Jennifer MacKenzie

Douglas Coyle

Sarah Bowdin

Clara van Karnebeek

Earl Silverman

Shannon Knights

Elena Pope

Anne Kawamura

Hernan Gonorazky

Rayfel Schneider