David Watkins

McGill University Health Centre — Canada

Medicine · Health Sciences

37h-index5.2kcitations144works1.52yr avg
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Research Topics

Folate and B Vitamins Research(98), Metabolism and Genetic Disorders(80), Porphyrin Metabolism and Disorders(55), RNA modifications and cancer(11), Biochemical and Molecular Research(9)

Publications143 total

Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis
Molecular Genetics and Metabolism·2025
P679: Functional studies in fibroblasts cultured from patients with inborn errors of vitamin B12 metabolism
Genetics in Medicine Open·2025Open Access
Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis
SSRN Electronic Journal·2025Open Access
Vitamins: cobalamin and folate
Elsevier eBooks·2024
Differential utilization of vitamin B12-dependent and independent pathways for propionate metabolism across human cells
Journal of Biological Chemistry·2024· 7 citedOpen Access
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
Molecular Genetics and Metabolism·2024· 5 cited
P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)
Genetics in Medicine Open·2024Open Access
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation
Molecular Genetics and Metabolism·2023· 2 cited
Growth Requirement for Methionine in Human Melanoma-Derived Cell Lines with Different Levels of Mmachc Expression and Methylation
SSRN Electronic Journal·2023Open Access
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
Clinical Epigenetics·2022· 13 citedOpen Access
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
Human Genetics·2022· 12 citedOpen Access
Probing the functional consequence and clinical relevance of <scp><i>CD320</i></scp> p.E88del, a variant in the transcobalamin receptor gene
American Journal of Medical Genetics Part A·2022· 7 citedOpen Access
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Nature Communications·2022· 32 citedOpen Access
Inherited defects of cobalamin metabolism
Vitamins and hormones·2022· 23 cited
Disorders of Cobalamin and Folate Transport and Metabolism
2022· 5 cited
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
Genetics in Medicine·2021
M202 PERSISTENT MTHFD1-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY DESPITE FOLINIC ACID SUPPLEMENTATION; HEMATOPOIETIC ALLOGENEIC TRANSPLANTATION REQUIRED
Annals of Allergy Asthma & Immunology·2021· 1 cited
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment
Journal of Inherited Metabolic Disease·2021· 27 cited
Shifting landscapes of human MTHFR missense-variant effects
The American Journal of Human Genetics·2021· 75 citedOpen Access
Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism
2021· 1 cited
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Frequent Co-authors

David S. Rosenblatt(42), Daniel Leclerc(6), Jordan Lerner‐Ellis(6), Brian Fowler(6), Roy A. Gravel(5), David Coelho(5), Jacek Majewski(5), Matthias R. Baumgartner(5), Tomi Pastinen(5), Chris Dobson(4), Terttu Suormala(4), Rima Rozen(4), Mihaela Pupavac(4), Jamie C. Tirone(3), Carole Doré(3), Chantal F. Morel(3), Eric A. Shoubridge(3), Pierre Lepage(3), Natascia Anastasio(3), Alison Brebner(3)