Abdulrahman Aldeeri
Boston Children's Hospital(US)Harvard University(US)
Publications by Year
Research Areas
Cardiomyopathy and Myosin Studies, Heat shock proteins research, Connective tissue disorders research, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → 16. Contrast induced nephropathy, a single Saudi tertiary center experience(2015)21 cited
- → Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14‐related Ehlers–Danlos syndrome(2014)17 cited
- → Genotype‒phenotype correlation in recessive DNAJB4 myopathy(2024)8 cited
- → Epigenomic and phenotypic characterization of DEGCAGS syndrome(2024)5 cited
- → A lethal phenotype associated with tissue plasminogen deficiency in humans(2016)4 cited
- → RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront(2024)2 cited
- → A typical variant in TCF4 exon 18 is not associated with Pitt–Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder(2022)2 cited
- → Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS(2024)1 cited