Ahmed Alfares

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

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 115 citations · Full text

The morbid genome of ciliopathies: an update

Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida et al. · Genetics in Medicine · 2020 · 103 citations · Full text

Genetic Disorder, Medicine, Genetics +7

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