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Natascia Anastasio

Observed name: Anastasio, Natascia
Observed institutions: Université de Sherbrooke, Montreal General Hospital, McGill University Health Centre, Centre Hospitalier Universitaire de Sherbrooke, Massachusetts General Hospital, McGill University
ORCID: 0000-0003-0818-0678
Observed ORCID: 0000-0003-0818-0678
OpenAlex ID: A5010910625
Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations
2009 · Jordan P. Lerner-Ellis, Natascia Anastasio, et al. · Human Mutation · 220
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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome
2010 · Natascia Anastasio, Tawfeg Ben-Omran, et al. · The American Journal of Human Genetics · 77
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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12
2010 · Edward V. Quadros, Shao-Chiang Lai, et al. · Human Mutation · 73
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
2011 · Ahmed Alfares, Laura Dempsey Nunez, et al. · Journal of Medical Genetics · 54
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Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence
2009 · Amanda D. Loewy, Kirsten M. Niles, et al. · Molecular Genetics and Metabolism · 28
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
2016 · Natascia Anastasio, Maja Tarailo-Graovac, et al. · JIMD Reports · 11
Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity
2023 · Tenzin Gayden, Gabriel Crevier-Sorbo, et al. · Journal of Neurosurgery Pediatrics · 3
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
2024 · Zachary T. Sentell, Zachary W. Nurcombe, et al. · European Journal of Human Genetics · 2
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Expanding the prenatal and postnatal phenotype spectrum of HEATR5B-related disorders
2026 · Hamish SCOTT, Thi Thuong Ha, et al. · Research Square
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Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis
2025 · David Watkins, Caitlin Zacharias, et al. · Molecular Genetics and Metabolism
76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs
2022 · Fléchère Fortin, Natascia Anastasio, et al. · Cancer Genetics
Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis
2022 · Janine El Helou, Tracy B. Perry, et al. · Molecular Genetics and Metabolism
Rare Variants in Syndromic Ciliopathy Genes as Novel Causes of Isolated Renal Disease in Adults
2021 · Zachary T. Sentell, Lina Mougharbel, et al. · Journal of the American Society of Nephrology
Allelic expression of «MMACHC» and evidence for genotype-phenotype correlations in «cblC» disease
2010 · Anastasio, Natascia
Works count: 15
Citation count: 468
H-index: 6
I10-index: 6
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