Wafaa Eyaid
King Saud bin Abdulaziz University for Health Sciences(SA)King Abdulaziz Medical City(SA)King Abdullah International Medical Research Center(SA)National Guard Health Affairs(SA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome(2004)411 cited
- → Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome(2008)395 cited
- → Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
- → Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking(2006)318 cited
- → Mutations in PNKP cause microcephaly, seizures and defects in DNA repair(2010)290 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited