Anastasia Ambrose - Publications, H-index & Citations

Anastasia Ambrose

university of alberta

3H指数

25论文数

22被引数

收录论文 8

发表时间

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using real-world-evidence from Canada 基于加拿大真实世界证据的长链脂肪酸氧化障碍临床严重程度评分的开发与验证

Molecular Genetics and Metabolism

IF3.5

2026-03-05

PREAI

Randa Sultan; Anastasia Ambrose; Shalini Bahl; Clara Hung; Gabriella Horvath; Ramona Salvarinova; Alicia Chan; Shailly Jain-Ghai; Jerry Vockley; Saadet Mercimek-Andrews

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 treatment ALDH7A1基因双等位基因致病变异所致吡哆醇依赖性癫痫的新型疗法：三庚酸甘油酯治疗中的继发性线粒体能量缺乏及神经发育结局改善

Therapeutic Advances in Rare Disease

IF0

2026-01-01

PREAI

Ambrose, Anastasia; McCabe, Morganne; Bahl, Shalini; Sinasac, David; Snyder, Thomas; Mercimek-Andrews, Saadet

Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review LARP7基因变异的功能表征：三例Alazami综合征新病例报告及文献综述

Human Mutation

IF3.7

2025-06-12

OAAI

Anastasia Ambrose; Oana Caluseriu; Saadet Mercimek-Andrews

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-03-01

PREAI

Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T.; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlene; Lee, Kristen N.; Beil, Adelyn; Suri, Mohnish; Guerin, Francois; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, Francois; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D.; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N.; Wentzensen, Ingrid M.; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel

Neonatal Encephalopathy

NEUROLOGY-GENETICS

IF3.7

2025-02-01

PREAI

Ambrose, Anastasia; Mcniven, Vanda; Wilson, Diane; Tempes, Aleksandra; Underwood, Mary; Chau, Vann; Schulze, Andreas; Wyszynska, Agnieszka; Desch, Karl; Malik, Anna R.; Mercimek-Andrews, Saadet

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-11-12

OAAI

Ambrose, Anastasia; Bahl, Shalini; Sharma, Saloni; Zhang, Dan; Hung, Clara; Jain-Ghai, Shailly; Chan, Alicia; Mercimek-Andrews, Saadet

Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-01

PREAI

Mercimek-Andrews, Saadet; Ambrose, Anastasia; Sharma, Saloni; Zhang, Dan; Bahl, Shalini; Hung, Clara; Jain, Shailly; Chan, Alicia