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28 results

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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. Among authors: vuzman d. 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.
Genetic testing for SCA27B in Korean multiple system atrophy.
Laß J, Berselli M, Rioux D, Schaake S, Follett J, Bravo JE, Veit AD, Ronchetti W, Reiff SB, Huentelman MJ, Vuzman D, Bower P, Khurana V, Trinh J, Jeon B, Kim HJ, Farrer MJ. Laß J, et al. Among authors: vuzman d. Brain. 2025 Jul 17:awaf263. doi: 10.1093/brain/awaf263. Online ahead of print. Brain. 2025. PMID: 40671338 No abstract available.
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: vuzman d. 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.
Negative selection in humans and fruit flies involves synergistic epistasis.
Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC; Genome of the Netherlands Consortium; Alzheimer’s Disease Neuroimaging Initiative; van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR. Sohail M, et al. Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238. Science. 2017. PMID: 28473589 Free PMC article.
Skewed X-inactivation is common in the general female population.
Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium. Shvetsova E, et al. Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552425 Free PMC article.
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease.
Aryan Z, Szanto A, Pantazi A, Reddi T, Rheinstein C, Powers W, Wilson E, Deo RC, Chowdhury S, Salz L, Dimmock D, Nahas S, Benson W, Kingsmore SF, MacRae CA, Vuzman D. Aryan Z, et al. Among authors: vuzman d. Circ Genom Precis Med. 2020 Oct;13(5):406-416. doi: 10.1161/CIRCGEN.120.002961. Epub 2020 Aug 26. Circ Genom Precis Med. 2020. PMID: 32847406 Free article.
Actionable gene-based classification toward precision medicine in gastric cancer.
Ichikawa H, Nagahashi M, Shimada Y, Hanyu T, Ishikawa T, Kameyama H, Kobayashi T, Sakata J, Yabusaki H, Nakagawa S, Sato N, Hirata Y, Kitagawa Y, Tanahashi T, Yoshida K, Nakanishi R, Oki E, Vuzman D, Lyle S, Takabe K, Ling Y, Okuda S, Akazawa K, Wakai T. Ichikawa H, et al. Among authors: vuzman d. Genome Med. 2017 Oct 31;9(1):93. doi: 10.1186/s13073-017-0484-3. Genome Med. 2017. PMID: 29089060 Free PMC article.
A framework for the detection of de novo mutations in family-based sequencing data.
Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP; Genome of the Netherlands consortium; Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI. Francioli LC, et al. Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23. Eur J Hum Genet. 2017. PMID: 27876817 Free PMC article.
28 results