Amal AlQassmi
King Saud Medical City(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Diet and metabolism studies, Neuroscience and Neuropharmacology Research
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Dose Positive CHD8 have a Role in Ketogenic Diet Response in Autism: A Case Report(2018)40 cited
- → Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update(2020)22 cited
- → Benign mesial temporal lobe epilepsy: A clinical cohort and literature review(2016)6 cited
- → The challenge of diagnosing and successfully treating anti-NMDA receptor encephalitis in a toddler(2020)2 cited
- → A Case Report: An Approach to Recognize a Role in Ketogenic Diet Response in Autism with Positive CHD8(2021)1 cited
- → Case report of a de novo mutation of PCDH19 in Saudi family limited to females(2021)
- An Unusual Presentation of a Child with Diabetic Ketoacidosis. Case Report(2020)
- → Review for "The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders"(2019)
- → Review for "Report of the first patient with a homozygous <i>OTUD7A</i> variant responsible for epileptic encephalopathy and related proteasome dysfunction"(2019)