Taimoor I. Sheikh

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

Ricardo Harripaul, Nasim Vasli, Muhammad Rafiq et al. · Molecular Psychiatry · 2017 · 177 citations

Mendelian Disorder, Novel Candidate Genes, Genetic Disorder +6

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore et al. · Translational Psychiatry · 2021 · 147 citations · Full text

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

Alexia Martínez de Paz, Leila Khajavi, Hélène Martin et al. · Epigenetics & Chromatin · 2019 · 69 citations · Full text

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Iltaf Ahmed, Rebecca Buchert, Mi Zhou et al. · Human Molecular Genetics · 2015 · 58 citations · Full text

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

Iltaf Ahmed, Kirti Mittal, Taimoor I. Sheikh et al. · Human Genetics · 2014 · 32 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +6