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Year Number of Results
2004 1
2008 2
2009 3
2010 2
2011 1
2012 2
2013 3
2014 2
2015 2
2016 1
2017 7
2018 1
2019 5
2020 6
2021 5
2022 1
2023 5
2024 1

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46 results

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Page 1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS. Maddirevula S, et al. Among authors: kuwahara h. Genome Biol. 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. Genome Biol. 2020. PMID: 32552793 Free PMC article. Clinical Trial.
A standard-enabled workflow for synthetic biology.
Myers CJ, Beal J, Gorochowski TE, Kuwahara H, Madsen C, McLaughlin JA, Mısırlı G, Nguyen T, Oberortner E, Samineni M, Wipat A, Zhang M, Zundel Z. Myers CJ, et al. Among authors: kuwahara h. Biochem Soc Trans. 2017 Jun 15;45(3):793-803. doi: 10.1042/BST20160347. Biochem Soc Trans. 2017. PMID: 28620041 Free article. Review.
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Malawsky DS, van Walree E, Jacobs BM, Heng TH, Huang QQ, Sabir AH, Rahman S, Sharif SM, Khan A, Mirkov MU; 23andMe Research Team; Genes & Health Research Team; Kuwahara H, Gao X, Alkuraya FS, Posthuma D, Newman WG, Griffiths CJ, Mathur R, van Heel DA, Finer S, O'Connell J, Martin HC. Malawsky DS, et al. Among authors: kuwahara h. Cell. 2023 Oct 12;186(21):4514-4527.e14. doi: 10.1016/j.cell.2023.08.028. Epub 2023 Sep 26. Cell. 2023. PMID: 37757828 Free PMC article.
Clinical utility of polygenic scores for cardiometabolic disease in Arabs.
Shim I, Kuwahara H, Chen N, Hashem MO, AlAbdi L, Abouelhoda M, Won HH, Natarajan P, Ellinor PT, Khera AV, Gao X, Alkuraya FS, Fahed AC. Shim I, et al. Among authors: kuwahara h. Nat Commun. 2023 Oct 18;14(1):6535. doi: 10.1038/s41467-023-41985-1. Nat Commun. 2023. PMID: 37852978 Free PMC article.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Among authors: kuwahara h. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
46 results