Anas M. Alazami
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Immunodeficiency and Autoimmune Disorders, Immune Cell Function and Interaction, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → TLE6 mutation causes the earliest known human embryonic lethality(2015)218 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation(2012)141 cited
- → Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome(2008)138 cited
- → Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus(2013)129 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue(2016)111 cited
- → Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number(2014)100 cited