| Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families R Harripaul, N Vasli, A Mikhailov, MA Rafiq, K Mittal, C Windpassinger, ... Molecular psychiatry 23 (4), 973-984, 2018 | 188 | 2018 |
| MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2 A Martínez de Paz, L Khajavi, H Martin, R Claveria-Gimeno, S Tom Dieck, ... Epigenetics & chromatin 12, 1-16, 2019 | 64 | 2019 |
| Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment I Ahmed, R Buchert, M Zhou, X Jiao, K Mittal, TI Sheikh, U Scheller, ... Human molecular genetics 24 (11), 3172-3180, 2015 | 54 | 2015 |
| A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient TI Sheikh, K Mittal, MJ Willis, JB Vincent Orphanet journal of rare diseases 8, 1-7, 2013 | 33 | 2013 |
| MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation TI Sheikh, AM de Paz, S Akhtar, J Ausio, JB Vincent Human molecular genetics 26 (21), 4132-4141, 2017 | 31 | 2017 |
| From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2 TI Sheikh, J Ausió, H Faghfoury, J Silver, JB Lane, JH Eubanks, ... Scientific Reports 6 (1), 38590, 2016 | 28 | 2016 |
| 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 … I Ahmed, K Mittal, TI Sheikh, N Vasli, MA Rafiq, A Mikhailov, M Ohadi, ... Human genetics 133, 1419-1429, 2014 | 26 | 2014 |
| Biallelic missense variants in ZBTB11 can cause intellectual disability in humans Z Fattahi, TI Sheikh, L Musante, M Rasheed, II Taskiran, R Harripaul, ... Human molecular genetics 27 (18), 3177-3188, 2018 | 23 | 2018 |
| MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro TI Sheikh, R Harripaul, M Ayub, JB Vincent Human Mutation 39 (5), 717-728, 2018 | 19 | 2018 |
| Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability TI Sheikh, N Vasli, S Pastore, K Kharizi, R Harripaul, Z Fattahi, S Pande, ... Translational psychiatry 11 (1), 1, 2021 | 17 | 2021 |
| Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations RSF Mok, W Zhang, TI Sheikh, K Pradeepan, IR Fernandes, LC DeJong, ... Translational psychiatry 12 (1), 450, 2022 | 15 | 2022 |
| Upregulated hepatic expression of mitochondrial PEPCK triggers initial gluconeogenic reactions in the HCV-3 patients TI Sheikh, T Adam, I Qadri Asian Pacific journal of tropical medicine 8 (8), 618-623, 2015 | 9 | 2015 |
| Expression of EBV Encoded viral RNA 1, 2 and anti-inflammatory Cytokine (interleukin-10) in FFPE lymphoma specimens: a preliminary study for diagnostic implication in Pakistan TI Sheikh, I Qadri Diagnostic Pathology 6, 1-8, 2011 | 7 | 2011 |
| Emerging molecular subtypes and therapies in acute lymphoblastic leukemia K Davis, T Sheikh, N Aggarwal Seminars in Diagnostic Pathology 40 (3), 202-215, 2023 | 6 | 2023 |
| Ptchd1 exon3 truncating mutations recapitulate more clinically relevant autistic-like traits in mice SY Ko, J Epp, K Mittal, T Sheikh, V Ha, B Degagne, A Mikhailov, L French, ... IBRO Reports 6, S507, 2019 | 2 | 2019 |
| P082: Increased risk of hematolymphoid neoplasms in individuals with heterozygous deletion of a Fanconi anemia gene T Sheikh, A Peffer, D Bellissimo, M Aarabi, S Yatsenko Genetics in Medicine Open 2, 2024 | 1 | 2024 |
| Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization TI Sheikh, R Harripaul, N Vasli, M Ghadami, SL Santangelo, M Ayub, ... Genes 13 (1), 51, 2021 | 1 | 2021 |
| Wide phenotypic spectrum of human stem cell-derived excitatory neurons with rett syndrome-associated MECP2 mutations RS Mok, W Zhang, T Sheikh, I Fernandes, L DeJong, M Hildebrandt, ... bioRxiv, 2020 | 1 | 2020 |
| P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification T Sheikh, J Vincent Genetics in Medicine Open 2, 2024 | | 2024 |
| Heterozygous de novo truncating mutation of nucleolin in an ASD individual disrupts its nucleolar localization TI Sheikh, N Vasli, M Ayub, R Sasanfar, JB Vincent EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1424-1424, 2019 | | 2019 |
