Neal Sondheimer

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index4.8kcitations113works25.82yr avg
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Research Topics

Metabolism and Genetic Disorders(42), Mitochondrial Function and Pathology(40), Genomics and Rare Diseases(17), RNA modifications and cancer(16), RNA and protein synthesis mechanisms(13)

Publications108 total

Publisher Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
Nature·2024· 5 citedOpen Access
A novel transmembrane <i>CXCR4</i> variant that expands the WHIM genotype-phenotype paradigm
Blood Advances·2024· 7 citedOpen Access
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
Nature·2024· 1 citedOpen Access
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
Nature·2024· 106 citedOpen Access
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Nature Genetics·2024· 37 cited
The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers
Cell Host & Microbe·2024· 27 citedOpen Access
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
BMC Pediatrics·2024· 1 citedOpen Access
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Genetics in Medicine·2023· 13 citedOpen Access
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial
Nature Metabolism·2023· 58 cited
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]
The Journal of Pediatrics·2023Open Access
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Genetics in Medicine·2023· 7 citedOpen Access
Whole Genome Sequencing to Resolve the Genomic Architecture of Cerebral Palsy in a Canadian Cohort (P13-9.003)
Neurology·2023
SYNB1353, A PROPOSED THERAPY FOR HOMOCYSTINURIA, LOWERS PLASMA METHIONINE AND HOMOCYSTEINE IN HEALTHY VOLUNTEERS EXPOSED TO A METHIONINE CHALLENGE
Molecular Genetics and Metabolism·2023
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy
Human Genetics and Genomics Advances·2023· 3 citedOpen Access
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Clinical Genetics·2022· 9 cited
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Nature Communications·2022· 26 citedOpen Access
O.08 Biallelic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase (PCK2) cause a recessive form of Charcot-Marie-Tooth disease
Neuromuscular Disorders·2022· 1 cited
In Science Journals
Science·2022
P793: SCREENING OF NATURALLY OCCURRING CXCR4 VARIANTS FOR IDENTIFICATION OF NOVEL PATHOGENIC MUTATIONS FOR WHIM SYNDROME
HemaSphere·2022Open Access
Abortion and inherited disease: Genetic disorders complicate the view that abortion is a choice
2022
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Frequent Co-authors

Dimitri J. Stavropoulos(5), Stephen W. Scherer(5), Marni J. Falk(5), Matthew A. Deardorff(5), Miriam S. Reuter(4), Bhooma Thiruvahindrapuram(4), Daniele Merico(4), Thomas Nalpathamkalam(4), Giovanna Pellecchia(4), Wilson W. L. Sung(4), Stacy Hewson(4), Saadet Mercimek‐Andrews(4), Christian R. Marshall(4), Susan Lindquist(4), Gregory Costain(3), Susan Walker(3), Zhuozhi Wang(3), Andreas Schulze(3), Rosanna Weksberg(3), Cheryl Shuman(3)