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Year Number of Results
2016 1
2017 1
2018 2
2019 5
2020 5
2021 3
2022 1
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14 results
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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Among authors: torene ri. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, Torene RI, Retterer K, Eichler EE. Turner TN, et al. Among authors: torene ri. Am J Hum Genet. 2019 Dec 5;105(6):1274-1285. doi: 10.1016/j.ajhg.2019.11.003. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785789 Free PMC article.
IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis.
Krueger JG, Wharton KA Jr, Schlitt T, Suprun M, Torene RI, Jiang X, Wang CQ, Fuentes-Duculan J, Hartmann N, Peters T, Koroleva I, Hillenbrand R, Letzkus M, Yu X, Li Y, Glueck A, Hasselberg A, Flannery B, Suárez-Fariñas M, Hueber W. Krueger JG, et al. Among authors: torene ri. J Allergy Clin Immunol. 2019 Sep;144(3):750-763. doi: 10.1016/j.jaci.2019.04.029. Epub 2019 May 24. J Allergy Clin Immunol. 2019. PMID: 31129129 Free article. Clinical Trial.
Germline pathogenic variants identified in women with ovarian tumors.
Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS. Carter NJ, et al. Among authors: torene ri. Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12. Gynecol Oncol. 2018. PMID: 30322717
Mobile element insertion detection in 89,874 clinical exomes.
Torene RI, Galens K, Liu S, Arvai K, Borroto C, Scuffins J, Zhang Z, Friedman B, Sroka H, Heeley J, Beaver E, Clarke L, Neil S, Walia J, Hull D, Juusola J, Retterer K. Torene RI, et al. Genet Med. 2020 May;22(5):974-978. doi: 10.1038/s41436-020-0749-x. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965078 Free PMC article.
Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J, Keller-Ramey J, Dyer L, Douglas G, Torene R, Gainullin V, Juusola J, Meck J, Retterer K. Scuffins J, et al. Among authors: torene r. Genet Med. 2021 Jun;23(6):1101-1107. doi: 10.1038/s41436-020-01092-8. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495530 Free PMC article.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL. Moreno-De-Luca A, et al. Among authors: torene ri. JAMA. 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148. JAMA. 2021. PMID: 33528536 Free PMC article.
14 results