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2020 | 1 |
2021 | 1 |
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A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Hum Genet. 2022 Dec;141(12):1875-1885. doi: 10.1007/s00439-022-02466-5. Epub 2022 Jun 23.
Hum Genet. 2022.
PMID: 35739291
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A.
Wojcik MH, et al.
N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761.
N Engl J Med. 2024.
PMID: 38838312
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Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.
Reble E, Gutierrez Salazar M, Zakoor KR, Khalouei S, Clausen M, Kodida R, Shickh S, Mighton C, Cohn I, Schrader KA, Kim RH, Lerner-Ellis J, Bombard Y.
Reble E, et al.
Hum Genet. 2021 Mar;140(3):493-504. doi: 10.1007/s00439-020-02220-9. Epub 2020 Sep 6.
Hum Genet. 2021.
PMID: 32892247
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