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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR, Venner E, Muzny DM, Metcalf GA, Murugan M, Hadley TD, Chander V, de Vries PS, Jia X, Hussain A, Agha AM, Sabo A, Li S, Meng Q, Hu J, Tian X, Cohen M, Yi V, Kovar CL, Gingras MC, Korchina V, Howard C, Riconda DL, Pereira S, Smith HS, Huda ZA, Buentello A, Marino PR, Leiber L, Balasubramanyam A, Amos CI, Civitello AB, Chelu MG, Maag R, McGuire AL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA. Murdock DR, et al. Among authors: meng q. Genet Med. 2021 Dec;23(12):2404-2414. doi: 10.1038/s41436-021-01294-8. Epub 2021 Aug 6. Genet Med. 2021. PMID: 34363016 Free PMC article.
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
Ruiz-García R, Vargas-Hernández A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM. Ruiz-García R, et al. Among authors: meng q. J Allergy Clin Immunol. 2018 Aug;142(2):605-617.e7. doi: 10.1016/j.jaci.2017.11.042. Epub 2018 Jan 10. J Allergy Clin Immunol. 2018. PMID: 29330011 Free PMC article.
The phenotypic spectrum of Xia-Gibbs syndrome.
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. Jiang Y, et al. Among authors: meng q. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696776 Free PMC article.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR. Beck CR, et al. Among authors: meng q. Cell. 2019 Mar 7;176(6):1310-1324.e10. doi: 10.1016/j.cell.2019.01.045. Epub 2019 Feb 28. Cell. 2019. PMID: 30827684 Free PMC article.
Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals.
Doddapaneni H, Cregeen SJ, Sucgang R, Meng Q, Qin X, Avadhanula V, Chao H, Menon V, Nicholson E, Henke D, Piedra FA, Rajan A, Momin Z, Kottapalli K, Hoffman KL, Sedlazeck FJ, Metcalf G, Piedra PA, Muzny DM, Petrosino JF, Gibbs RA. Doddapaneni H, et al. Among authors: meng q. bioRxiv [Preprint]. 2020 Jul 27:2020.07.27.223495. doi: 10.1101/2020.07.27.223495. bioRxiv. 2020. PMID: 32766579 Free PMC article. Updated. Preprint.
7,058 results