Tabib Dabir
University of Ulster(GB)Belfast City Hospital(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Genetic Syndromes and Imprinting
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability(2014)353 cited
- → Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders(2017)271 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants(2018)110 cited
- → Pathogenicity and selective constraint on variation near splice sites(2018)99 cited
- → Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons(2019)88 cited
- → Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging(2019)68 cited
- → Further delineation of the KAT6B molecular and phenotypic spectrum(2014)64 cited
- → The contribution of X-linked coding variation to severe developmental disorders(2021)63 cited