Abeer Al‐Saegh
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Fetal and Pediatric Neurological Disorders, RNA regulation and disease
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits(2018)72 cited
- → The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families(2022)29 cited
- → Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism(2021)12 cited
- → First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics(2019)12 cited
- → Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population(2015)10 cited
- → Further phenotypic delineation of Alazami syndrome(2022)8 cited
- → Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants(2020)4 cited
- → Author response for "Variability of non-lethal Fowler syndrome phenotype associated withFLVCR2variants"(2020)
- → Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia at Sultan Qaboos University Hospital with their Surveillance Outcomes(2024)