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Page 1
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center; Torres VE, Somlo S, Mirshahi T. Besse W, et al. Among authors: hartzel dn. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8. J Am Soc Nephrol. 2019. PMID: 31395617 Free PMC article.
Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.
Smith JL, Tester DJ, Hall AR, Burgess DE, Hsu CC, Elayi SC, Anderson CL, January CT, Luo JZ, Hartzel DN, Mirshahi UL, Murray MF, Mirshahi T, Ackerman MJ, Delisle BP. Smith JL, et al. Among authors: hartzel dn. Circ Arrhythm Electrophysiol. 2018 May;11(5):e005859. doi: 10.1161/CIRCEP.117.005859. Circ Arrhythm Electrophysiol. 2018. PMID: 29752375 Free PMC article.
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
Oetjens MT, Luo JZ, Chang A, Leader JB, Hartzel DN, Moore BS, Strande NT, Kirchner HL, Ledbetter DH, Justice AE, Carey DJ, Mirshahi T. Oetjens MT, et al. Among authors: hartzel dn. PLoS One. 2020 Nov 12;15(11):e0242182. doi: 10.1371/journal.pone.0242182. eCollection 2020. PLoS One. 2020. PMID: 33180868 Free PMC article.
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
Praveen K, Patel GC, Gurski L, Ayer AH, Persaud T, Still MD, Miloscio L, Van Zyl T, Di Gioia SA, Brumpton B, Krebs K, Åsvold BO, Chen E, Chavali VRM, Fury W, Gudiseva HV, Hyde S, Jorgenson E, Lefebvre S, Li D, Li A, Mclninch J, Patel B, Rabinowitz JS, Salowe R, Schurmann C, Seidelin AS, Stahl E, Sun D, Teslovich TM, Tybjærg-Hansen A, Willer C, Waldron S, Walley S, Yang H, Zaveri S; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Estonian Biobank Research Team; Hu Y, Hveem K, Melander O, Milani L, Stender S, O'Brien JM, Jones MB, Abecasis GR, Cantor MN, Weyne J, Karalis K, Economides A, Della Gatta G, Ferreira MA, Yancopoulos GD, Baras A, Romano C, Coppola G. Praveen K, et al. Commun Biol. 2022 Oct 3;5(1):1051. doi: 10.1038/s42003-022-03932-6. Commun Biol. 2022. PMID: 36192519 Free PMC article.
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Manickam K, et al. Among authors: hartzel dn. JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140. JAMA Netw Open. 2018. PMID: 30646163 Free PMC article.
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; Baras A, Hinkle G, Nioi P. Ward LD, et al. Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1. Nat Commun. 2021. PMID: 34315874 Free PMC article.
33 results