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Human Mutation|June 23, 2025
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature ReviewAnastasia Ambrose, Oana Caluseriu, Saadet Mercimek-Andrews
Molecular Genetics and Metabolism Reports|April 17, 2025
Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insightsAnastasia Ambrose, Morganne McCabe, Clara Hung, et al.
Therapeutic Advances in Rare Disease|March 6, 2026
A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatmentAnastasia Ambrose, Morganne McCabe, Shalini Bahl, et al.
Clinical Genetics|August 30, 2024
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotypeKarina C Silveira, Anastasia Ambrose, Taryn Athey, et al.
Orphanet Journal of Rare Diseases|September 15, 2022
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinicAnastasia Ambrose, Melissa Sheehan, Shalini Bahl, et al.
Orphanet Journal of Rare Diseases|November 13, 2024
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genomeAnastasia Ambrose, Shalini Bahl, Saloni Sharma, et al.
Molecular Genetics and Metabolism|March 11, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from CanadaRanda Sultan, Anastasia Ambrose, Shalini Bahl, et al.
Neurology. Genetics|January 15, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome SequencingAnastasia Ambrose, Vanda McNiven, Diane Wilson, et al.
JIMD Reports|November 15, 2024
Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatmentIgnacio Portales-Castillo, Rhea Singal, Anastasia Ambrose, et al.
European Journal of Human Genetics : EJHG|March 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesityAnge-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, et al.
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