Ehsan Ghayoor Karimiani
Polyclinic Medical Center(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer, Cellular transport and secretion, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia(2019)257 cited
- → A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency(2019)118 cited
- → Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases(2019)70 cited
- → SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects(2018)69 cited
- → Biallelic variants in KIF14 cause intellectual disability with microcephaly(2018)69 cited
- → Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination(2019)67 cited
- → Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder(2020)59 cited
- → Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24(2019)55 cited
- → Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies(2018)53 cited
- → Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia(2019)52 cited