Saeed Al-Turki

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Ahmed Alfares, Taghrid Aloraini, Lamia Al subaie et al. · Genetics in Medicine · 2018 · 167 citations · Full text

Long-read Sequencing, Sequencing, Whole-exome Sequencing +9

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza et al. · Brain · 2013 · 139 citations · Full text

Genetics, Glycobiology, Molecular Biology +20

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

Katy Barwick, Jane Wright, Saeed Al-Turki et al. · The American Journal of Human Genetics · 2012 · 106 citations · Full text

Neurological Disorder, Synaptic Transmission, Molecular Biology +20

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Ahmed Alfares, Majid Alfadhel, Tariq Ahmad Wani et al. · Molecular Genetics and Metabolism · 2017 · 90 citations

High Diagnostic Yield, Consanguineous Population, Saudi Arabia +10

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Joe Rainger, Davut Pehli̇van, Stefan Johansson et al. · The American Journal of Human Genetics · 2014 · 89 citations · Full text

Biallelic Mutations, Ocular Disease, Somatic Variant +10