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Year Number of Results
1994 1
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1999 1
2001 1
2002 3
2003 1
2005 2
2006 3
2007 5
2008 2
2009 1
2010 1
2011 1
2012 5
2013 12
2014 7
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2019 20
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2022 6
2023 5
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122 results

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Page 1
The negative impact of antibiotic resistance.
Friedman ND, Temkin E, Carmeli Y. Friedman ND, et al. Clin Microbiol Infect. 2016 May;22(5):416-22. doi: 10.1016/j.cmi.2015.12.002. Epub 2015 Dec 17. Clin Microbiol Infect. 2016. PMID: 26706614 Free article. Review.
Tumour lineage shapes BRCA-mediated phenotypes.
Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS. Jonsson P, et al. Among authors: friedman nd. Nature. 2019 Jul;571(7766):576-579. doi: 10.1038/s41586-019-1382-1. Epub 2019 Jul 10. Nature. 2019. PMID: 31292550 Free PMC article.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.
Rosen EY, Won HH, Zheng Y, Cocco E, Selcuklu D, Gong Y, Friedman ND, de Bruijn I, Sumer O, Bielski CM, Savin C, Bourque C, Falcon C, Clarke N, Jing X, Meng F, Zimel C, Shifman S, Kittane S, Wu F, Ladanyi M, Ebata K, Kherani J, Brandhuber BJ, Fagin J, Sherman EJ, Rekhtman N, Berger MF, Scaltriti M, Hyman DM, Taylor BS, Drilon A. Rosen EY, et al. Among authors: friedman nd. Nat Commun. 2022 Mar 18;13(1):1450. doi: 10.1038/s41467-022-28848-x. Nat Commun. 2022. PMID: 35304457 Free PMC article.
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME; MGH Myhre Syndrome Study Group. Lin AE, et al. Am J Med Genet A. 2024 Oct;194(10):e63638. doi: 10.1002/ajmg.a.63638. Epub 2024 May 23. Am J Med Genet A. 2024. PMID: 38779990 Free PMC article.
122 results