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2020 2
2021 150
2022 47
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Page 1
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C. Amar L, et al. Nat Rev Endocrinol. 2021 Jul;17(7):435-444. doi: 10.1038/s41574-021-00492-3. Epub 2021 May 21. Nat Rev Endocrinol. 2021. PMID: 34021277 Free PMC article. Review.
Problems with Using Polygenic Scores to Select Embryos.
Turley P, Meyer MN, Wang N, Cesarini D, Hammonds E, Martin AR, Neale BM, Rehm HL, Wilkins-Haug L, Benjamin DJ, Hyman S, Laibson D, Visscher PM. Turley P, et al. N Engl J Med. 2021 Jul 1;385(1):78-86. doi: 10.1056/NEJMsr2105065. N Engl J Med. 2021. PMID: 34192436 Free PMC article.
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C. Capalbo A, et al. Am J Hum Genet. 2021 Dec 2;108(12):2238-2247. doi: 10.1016/j.ajhg.2021.11.002. Epub 2021 Nov 18. Am J Hum Genet. 2021. PMID: 34798051 Free PMC article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
189 results