Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
Eyad AltamimiMariam KhanfarOmar Rabab'hZain DardasLuma SrourLina MustafaBilal AzabPublished in: The application of clinical genetics (2020)
This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.