Taimoor I. Sheikh
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Chromatin Remodeling and Cancer
Most-Cited Works
- → Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families(2017)182 cited
- → Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability(2021)148 cited
- → MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2(2019)71 cited
- → Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment(2015)58 cited
- → Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder(2014)33 cited
- → From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2(2016)29 cited
- → Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations(2022)29 cited
- → MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation(2017)28 cited
- → A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient(2013)26 cited