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Onwards! Open science and the (PLOS) genetics community.
Dudley AM, Goriely A, Squarr J. Dudley AM, et al. PLoS Genet. 2024 Nov 28;20(11):e1011466. doi: 10.1371/journal.pgen.1011466. eCollection 2024 Nov. PLoS Genet. 2024. PMID: 39607880 Free PMC article. No abstract available.
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM. Lo RS, et al. Among authors: dudley am. Am J Hum Genet. 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019. Am J Hum Genet. 2023. PMID: 37146589 Free PMC article.
Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.
Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN, Dudley AM. Xie MJ, et al. Among authors: dudley am. bioRxiv [Preprint]. 2023 Jan 27:2023.01.11.523651. doi: 10.1101/2023.01.11.523651. bioRxiv. 2023. Update in: PLoS Genet. 2023 Oct 9;19(10):e1010972. doi: 10.1371/journal.pgen.1010972 PMID: 36711904 Free PMC article. Updated. Preprint.
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS. Maddirevula S, et al. Among authors: dudley am. Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020. Front Genet. 2020. PMID: 33456446 Free PMC article.
46 results