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Page 1
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kochan DC, Anderson KC, Chung WK, Hebbring SJ, Salvati ZM, Sharp RR, Sturm AC, Gibbs RA, Rowley R, Venner E, Linder JE, Jones LK, Perez EF, Peterson JF, Jarvik GP, Rehm HL, Zouk H, Roden DM, Williams MS, Manolio TA, Kullo IJ. Dikilitas O, et al. Among authors: kochan dc. Circ Genom Precis Med. 2023 Apr;16(2):e003816. doi: 10.1161/CIRCGEN.122.003816. Epub 2023 Feb 22. Circ Genom Precis Med. 2023. PMID: 37071725 Free PMC article.
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 Consortium… See abstract for full author list ➔ Linder JE, et al. 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.
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati A, Elsekaily O, Saadatagah S, Kochan DC, Lee C, Wiesner GL, Liu C, Dellefave-Castillo L, Namjou B, Perez EF, Salvati ZM, Connolly JJ, Hakonarson H, Williams MS, Jarvik GP, Chung WK, McNally EM, Manolio TA, Kullo IJ. Sherafati A, et al. Among authors: kochan dc. Genet Med. 2022 Oct;24(10):2123-2133. doi: 10.1016/j.gim.2022.07.007. Epub 2022 Aug 10. Genet Med. 2022. PMID: 35943490 Free PMC article.
Effect of Rashba and Dresselhaus spin-orbit coupling on supercurrent rectification and magnetochiral anisotropy of ballistic Josephson junctions.
Baumgartner C, Fuchs L, Costa A, Picó-Cortés J, Reinhardt S, Gronin S, Gardner GC, Lindemann T, Manfra MJ, Faria Junior PE, Kochan D, Fabian J, Paradiso N, Strunk C. Baumgartner C, et al. Among authors: kochan d. J Phys Condens Matter. 2022 Feb 10;34(15). doi: 10.1088/1361-648X/ac4d5e. J Phys Condens Matter. 2022. PMID: 35051919
Supercurrent rectification and magnetochiral effects in symmetric Josephson junctions.
Baumgartner C, Fuchs L, Costa A, Reinhardt S, Gronin S, Gardner GC, Lindemann T, Manfra MJ, Faria Junior PE, Kochan D, Fabian J, Paradiso N, Strunk C. Baumgartner C, et al. Among authors: kochan d. Nat Nanotechnol. 2022 Jan;17(1):39-44. doi: 10.1038/s41565-021-01009-9. Epub 2021 Nov 18. Nat Nanotechnol. 2022. PMID: 34795437
36 results