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Page 1
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen NQH, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne CM, Rodriguez CJ, Kaplan RC, Muzny DM, Metcalf GA, Gibbs RA, Yu B, Boerwinkle E, Eberle MA, Sedlazeck FJ. Behera S, et al. Among authors: gibbs ra. BMC Med Genomics. 2024 Oct 24;17(1):255. doi: 10.1186/s12920-024-02024-0. BMC Med Genomics. 2024. PMID: 39449055 Free PMC article.
Complete Genomic Characterization of Global Pathogens, Respiratory Syncytial Virus (RSV), and Human Norovirus (HuNoV) Using Probe-based Capture Enrichment.
Bhamidipati SV, Surathu A, Chao H, Agustinho DP, Xiang Q, Kottapalli K, Santhanam A, Momin Z, Walker K, Menon VK, Weissenberger G, Emerick N, Mahjabeen F, Meng Q, Hu J, Sucgang R, Henke D, Sedlazeck FJ, Khan Z, Metcalf GA, Avadhanula V, Piedra PA, Ramani S, Atmar RL, Estes MK, Petrosino JF, Gibbs RA, Muzny DM, Cregeen SJ, Doddapaneni H. Bhamidipati SV, et al. Among authors: gibbs ra. bioRxiv [Preprint]. 2024 Sep 16:2024.09.16.613242. doi: 10.1101/2024.09.16.613242. bioRxiv. 2024. PMID: 39345650 Free PMC article. Preprint.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: gibbs ra. Genet Med. 2024 Sep 19:101273. doi: 10.1016/j.gim.2024.101273. Online ahead of print. Genet Med. 2024. PMID: 39306721
Examining intra-host genetic variation of RSV by short read high-throughput sequencing.
Henke D, Piedra FA, Avadhanula V, Doddapaneni H, Muzny DM, Menon VK, Hoffman KL, Ross MC, Javornik Cregeen SJ, Metcalf G, Gibbs RA, Petrosino JF, Piedra PA. Henke D, et al. Among authors: gibbs ra. bioRxiv [Preprint]. 2024 Sep 3:2023.05.17.541198. doi: 10.1101/2023.05.17.541198. bioRxiv. 2024. PMID: 39282457 Free PMC article. Preprint.
INTRA- AND INTER-HOST EVOLUTION OF HUMAN NOROVIRUS IN HEALTHY ADULTS.
Ramani S, Javornik Cregeen SJ, Surathu A, Neill FH, Muzny DM, Doddapaneni H, Menon VK, Hoffman KL, Ross MC, Metcalf G, Opekun AR, Graham DY, Gibbs RA, Petrosino JF, Estes MK, Atmar RL. Ramani S, et al. Among authors: gibbs ra. bioRxiv [Preprint]. 2024 Sep 5:2023.05.30.542907. doi: 10.1101/2023.05.30.542907. bioRxiv. 2024. PMID: 39282326 Free PMC article. Preprint.
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.
Shyr D, Dey R, Li X, Zhou H, Boerwinkle E, Buyske S, Daly M, Gibbs RA, Hall I, Matise T, Reeves C, Stitziel NO, Zody M, Neale BM, Lin X. Shyr D, et al. Among authors: gibbs ra. Am J Hum Genet. 2024 Oct 3;111(10):2129-2138. doi: 10.1016/j.ajhg.2024.08.018. Epub 2024 Sep 12. Am J Hum Genet. 2024. PMID: 39270648
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.
Dardas Z, Marafi D, Duan R, Fatih JM, El-Rashidy OF, Grochowski CM, Carvalho CMB, Jhangiani SN, Bi W, Du H, Gibbs RA, Posey JE, Calame DG, Zaki MS, Lupski JR. Dardas Z, et al. Among authors: gibbs ra. Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01680-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39256534
887 results