Bryan Sayson

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

The genotypic and phenotypic spectrum of PIGA deficiency

Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu et al. · Orphanet Journal of Rare Diseases · 2015 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Sandra Sirrs, Clara DM van Karnebeek, Xiaoxue Peng et al. · Orphanet Journal of Rare Diseases · 2015 · 30 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Liam R. Brunham, Martin H. Kang, Clara van Karnebeek et al. · JIMD Reports · 2014 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

Bryan Sayson, Marioara Angela Moisa Popurs, Mirafe Lafek et al. · Molecular Genetics and Metabolism · 2015 · 16 citations

Medicine, Neurology, Pediatrics +9