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Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty M, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube G, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Brant Pinheiro SV, Araújo Oliveira E, E Silva ACS, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: khan a. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293554. doi: 10.1101/2023.08.02.23293554. medRxiv. 2023. Update in: Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9 PMID: 37577628 Free PMC article. Updated. Preprint.
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E. Lennon NJ, et al. Among authors: khan a. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. Update in: Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z PMID: 37333246 Free PMC article. Updated. Preprint.
Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics.
Mosley JD, Shelley JP, Dickson AL, Zanussi J, Daniel LL, Zheng NS, Bastarache L, Wei WQ, Shi M, Jarvik GP, Rosenthal EA, Khan A, Sherafati A, Kullo IJ, Walunas TL, Glessner J, Hakonarson H, Cox NJ, Roden DM, Frangakis SG, Vanderwerff B, Stein CM, Van Driest SL, Borinstein SC, Shu XO, Zawistowski M, Chung CP, Kawai VK. Mosley JD, et al. Among authors: khan a. medRxiv [Preprint]. 2023 Aug 21:2023.08.20.23294331. doi: 10.1101/2023.08.20.23294331. medRxiv. 2023. Update in: Nat Commun. 2024 Apr 22;15(1):3384. doi: 10.1038/s41467-024-47804-5 PMID: 37662324 Free PMC article. Updated. Preprint.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Con… See abstract for full author list ➔ Linder JE, et al. Among authors: khan a. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum.
Lee DSM, Cardone KM, Zhang DY, Tsao NL, Abramowitz S, Sharma P, DePaolo JS, Conery M, Aragam KG, Biddinger K, Dilitikas O, Hoffman-Andrews L, Judy RL, Khan A, Kulo I, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P; Regeneron Genetics Center; Arany ZP, Cappola TP, Carruth E, Day SM, Do R, Haggarty CM, Joseph J, McNally EM, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun YV, Voight BF, Levin MG, Damrauer SM. Lee DSM, et al. Among authors: khan a. medRxiv [Preprint]. 2024 Oct 23:2023.07.16.23292724. doi: 10.1101/2023.07.16.23292724. medRxiv. 2024. PMID: 37503172 Free PMC article. Preprint.
Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.
Fejzo M, Wang X, Zöllner J, Pujol-Gualdo N, Laisk T; Estonian Biobank Research Team; Finer S, van Heel DA; Genes & Health Research Team; Brumpton B, Bhatta L, Hveem K, Jasper EA, Velez Edwards DR, Hellwege JN, Edwards T, Jarvik GP, Luo Y, Khan A, MacGibbon K, Gao Y, Ge G, Averbukh I, Soon E, Angelo M, Magnus P, Johansson S, Njølstad PR, Vaudel M, Shu C, Mancuso N. Fejzo M, et al. Among authors: khan a. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317559. doi: 10.1101/2024.11.19.24317559. medRxiv. 2024. PMID: 39606329 Free PMC article. Preprint.
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