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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 2 |
2019 | 2 |
2020 | 1 |
2021 | 2 |
2022 | 1 |
2024 | 0 |
Search Results
7 results
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Page 1
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14.
Genet Med. 2020.
PMID: 31723249
Free PMC article.
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H.
Fattahi Z, et al.
Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220.
Hum Mol Genet. 2018.
PMID: 29893856
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Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.
Sheikh TI, Harripaul R, Vasli N, Ghadami M, Santangelo SL, Ayub M, Sasanfar R, Vincent JB.
Sheikh TI, et al.
Genes (Basel). 2021 Dec 24;13(1):51. doi: 10.3390/genes13010051.
Genes (Basel). 2021.
PMID: 35052391
Free PMC article.
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Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M.
Rabia A, et al.
Genes (Basel). 2022 Sep 11;13(9):1633. doi: 10.3390/genes13091633.
Genes (Basel). 2022.
PMID: 36140801
Free PMC article.
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Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.
Pastore SF, Muhammad T, Harripaul R, Lau R, Khan MTM, Khan MI, Islam O, Kang C, Ayub M, Jelani M, Vincent JB.
Pastore SF, et al.
Sci Rep. 2021 Nov 30;11(1):23113. doi: 10.1038/s41598-021-02599-z.
Sci Rep. 2021.
PMID: 34848785
Free PMC article.
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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.
Harripaul R, et al.
Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11.
Mol Psychiatry. 2018.
PMID: 28397838
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MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.
Martínez de Paz A, Khajavi L, Martin H, Claveria-Gimeno R, Tom Dieck S, Cheema MS, Sanchez-Mut JV, Moksa MM, Carles A, Brodie NI, Sheikh TI, Freeman ME, Petrotchenko EV, Borchers CH, Schuman EM, Zytnicki M, Velazquez-Campoy A, Abian O, Hirst M, Esteller M, Vincent JB, Malnou CE, Ausió J.
Martínez de Paz A, et al.
Epigenetics Chromatin. 2019 Oct 10;12(1):63. doi: 10.1186/s13072-019-0298-1.
Epigenetics Chromatin. 2019.
PMID: 31601272
Free PMC article.
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