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Page 1
Counterpoint: Do not opine before it's time.
Kohane IS, Margulies DM. Kohane IS, et al. Among authors: margulies dm. Nat Biotechnol. 2011 Mar;29(3):218-9. doi: 10.1038/nbt.1797. Nat Biotechnol. 2011. PMID: 21390023 No abstract available.
Comparative RNA editing in autistic and neurotypical cerebella.
Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. Eran A, et al. Among authors: margulies dm. Mol Psychiatry. 2013 Sep;18(9):1041-8. doi: 10.1038/mp.2012.118. Epub 2012 Aug 7. Mol Psychiatry. 2013. PMID: 22869036 Free PMC article.
Genetic Misdiagnoses and the Potential for Health Disparities.
Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS. Manrai AK, et al. Among authors: margulies dm. N Engl J Med. 2016 Aug 18;375(7):655-65. doi: 10.1056/NEJMsa1507092. N Engl J Med. 2016. PMID: 27532831 Free PMC article.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palanda… See abstract for full author list ➔ Brownstein CA, et al. Among authors: margulies dm. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. Reddy HM, et al. Among authors: margulies dm. J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6. J Hum Genet. 2017. PMID: 27708273 Free PMC article.
Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.
Williams LA, Gerber DJ, Elder A, Tseng WC, Baru V, Delaney-Busch N, Ambrosi C, Mahimkar G, Joshi V, Shah H, Harikrishnan K, Upadhyay H, Rajendran SH, Dhandapani A, Meier J, Ryan SJ, Lewarch C, Black L, Douville J, Cinquino S, Legakis H, Nalbach K, Behrends C, Sato A, Galluzzi L, Yu TW, Brown D, Agrawal S, Margulies D, Kopin A, Dempsey GT. Williams LA, et al. Mol Ther Nucleic Acids. 2022 Jun 22;29:189-203. doi: 10.1016/j.omtn.2022.06.015. eCollection 2022 Sep 13. Mol Ther Nucleic Acids. 2022. PMID: 35860385 Free PMC article.
25 results