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International Journal of Health Sciences|September 12, 2018
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rateAhmed A Alfares
Orphanet Journal of Rare Diseases|September 16, 2016
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi ArabiaMajid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2015
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivityAhmed A Alfares, Melissa A Kelly, Gregory McDermott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2015
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivityAhmed A Alfares, Melissa A Kelly, Gregory McDermott, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
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