Jawahir Y. Mohamed
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Connexins and lens biology, Glaucoma and retinal disorders, Intraocular Surgery and Lenses, Ophthalmology and Visual Impairment Studies, Retinal Diseases and Treatments
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia(2011)185 cited
- → Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus(2013)129 cited
- → Mutations in LRPAP1 Are Associated with Severe Myopia in Humans(2013)128 cited
- → In search of triallelism in Bardet–Biedl syndrome(2012)124 cited
- → Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly(2013)97 cited
- → The distinct ophthalmic phenotype of Knobloch syndrome in children(2012)81 cited
- → A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B(2015)79 cited
- → Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome(2014)71 cited
- → Expanding the phenome and variome of skeletal dysplasia(2018)70 cited