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Author

Sarah Alsubhi

Congenital disorders of glycosylation: The Saudi experience
2017 · Sarah Alsubhi, Amal Alhashem, et al. · American Journal of Medical Genetics Part A · 42
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
2022 · Ken Saida, Reza Maroofian, et al. · Genetics in Medicine · 36
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Further Delineation of the ALG9-CDG Phenotype
2015 · Sarah AlSubhi, Amal AlHashem, et al. · JIMD Reports · 20
Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy
2024 · Sarah Alsubhi, Saoussen Berrahmoune, et al. · Journal of Neurology · 18
Sepiapterin reductase deficiency: Report of 5 new cases
2017 · Sarah AlSubhi, Saad AlShahwan, et al. · European Journal of Paediatric Neurology · 15
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
2022 · Sarah Alsubhi, Bradley Osterman, et al. · Frontiers in Neurology · 5
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Teaching NeuroImages: CLOVES Syndrome
2020 · Meagan Collins, Eric Krochmalnek, et al. · Neurology · 1
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The diagnostic yield of next generation sequencing panels for epilepsy in clinical practice (2229)
2020 · Leslie A. Scarffe, Sarah Alsubhi, et al. · Neurology · 1
DDX3X syndrome: a multicenter genotype-phenotype study
2025 · Emanuele G. Coci, Christoph G.W. Gertzen, et al. · Research Square
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C.1 Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy
2024 · S Alsubhi · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
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Works count: 10
Citation count: 138
H-index: 5
I10-index: 5
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