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Page 1
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). Haghighi A, et al. Among authors: frank ny, frank a. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.
Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine; Vuzman D. Cassa CA, et al. Among authors: frank ny. Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. Rheumatology (Oxford). 2016. PMID: 26493744 Free PMC article. No abstract available.
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.
Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D; Brigham Genomic Medicine; Mecham RP, Frank NY, Stitziel NO. Lee VS, et al. Among authors: frank ny. Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8759-64. doi: 10.1073/pnas.1601442113. Epub 2016 Jul 18. Proc Natl Acad Sci U S A. 2016. PMID: 27432961 Free PMC article.
Reply.
Joseph K, Constantino-Silva RN, Grumach AS, Feldweg A, Wright L, Frank N, Vuzman D, Sharma R, Suffritti C, Cicardi M, Varga L, Farkas H, Bork K, Kaplan AP. Joseph K, et al. J Allergy Clin Immunol. 2017 May;139(5):1720-1721. doi: 10.1016/j.jaci.2016.12.983. Epub 2017 Mar 16. J Allergy Clin Immunol. 2017. PMID: 28318557 No abstract available.
Isolation of tumorigenic circulating melanoma cells.
Ma J, Lin JY, Alloo A, Wilson BJ, Schatton T, Zhan Q, Murphy GF, Waaga-Gasser AM, Gasser M, Stephen Hodi F, Frank NY, Frank MH. Ma J, et al. Among authors: frank ny, frank mh. Biochem Biophys Res Commun. 2010 Nov 26;402(4):711-7. doi: 10.1016/j.bbrc.2010.10.091. Epub 2010 Oct 25. Biochem Biophys Res Commun. 2010. PMID: 20977885 Free PMC article.
VEGFR-1 expressed by malignant melanoma-initiating cells is required for tumor growth.
Frank NY, Schatton T, Kim S, Zhan Q, Wilson BJ, Ma J, Saab KR, Osherov V, Widlund HR, Gasser M, Waaga-Gasser AM, Kupper TS, Murphy GF, Frank MH. Frank NY, et al. Among authors: frank mh. Cancer Res. 2011 Feb 15;71(4):1474-85. doi: 10.1158/0008-5472.CAN-10-1660. Epub 2011 Jan 6. Cancer Res. 2011. PMID: 21212411 Free PMC article.
Colorectal Cancer Stem Cells: Biology and Therapeutic Implications.
Wilson BJ, Schatton T, Frank MH, Frank NY. Wilson BJ, et al. Among authors: frank mh, frank ny. Curr Colorectal Cancer Rep. 2011 Jun;7(2):128-135. doi: 10.1007/s11888-011-0093-2. Curr Colorectal Cancer Rep. 2011. PMID: 21552371 Free PMC article.
ABCB5 identifies a therapy-refractory tumor cell population in colorectal cancer patients.
Wilson BJ, Schatton T, Zhan Q, Gasser M, Ma J, Saab KR, Schanche R, Waaga-Gasser AM, Gold JS, Huang Q, Murphy GF, Frank MH, Frank NY. Wilson BJ, et al. Among authors: frank mh, frank ny. Cancer Res. 2011 Aug 1;71(15):5307-16. doi: 10.1158/0008-5472.CAN-11-0221. Epub 2011 Jun 7. Cancer Res. 2011. PMID: 21652540 Free PMC article.
70 results