Edith Said
Mater Dei Hospital(MT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Autophagy in Disease and Therapy, Metabolism and Genetic Disorders
Most-Cited Works
- → Diagnosis and management of Silver–Russell syndrome: first international consensus statement(2016)496 cited
- → A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy(2014)313 cited
- → Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy(2012)279 cited
- → EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy(2016)140 cited
- → International consensus recommendations on the diagnostic work-up for malformations of cortical development(2020)133 cited
- → Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes(2021)83 cited
- → Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion(2008)60 cited
- → Infantile Hypertrophic Pyloric Stenosis: An Epidemiological Review(2018)46 cited
- → Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy(2011)32 cited
- → Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy(2021)28 cited