Saeed M Al-Tala

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 276 citations · Full text

Sequencing, Next-generation Sequencing, Genetics +8

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly, Bogdan Polevoda, Kamel Awayda et al. · The American Journal of Human Genetics · 2022 · 43 citations · Full text

Trna Acetylation, Developmental Biology, Syndromic Neurodevelopmental Disorder +9

Coexistence of epileptic encephalopathy with continuous spike-and-wave during sleep, atypical benign partial epilepsy, and fixation-off sensitivity in two siblings

Imad Yassin Saadeldin, Saeed M Al-Tala · Epilepsy & Behavior · 2010 · 10 citations

Epileptic Encephalopathy, Sleep, Neurophysiology +12