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Page 1
Correction to: Clinical trial-ready patient cohorts for multiple system atrophy: coupling biospecimen and iPSC banking to longitudinal deep-phenotyping.
Ndayisaba A, Pitaro AT, Willett AS, Jones KA, de Gusmao CM, Olsen AL, Kim J, Rissanen E, Woods JK, Srinivasan SR, Nagy A, Nagy A, Mesidor M, Cicero S, Patel V, Oakley DH, Tuncali I, Taglieri-Noble K, Clark EC, Paulson J, Krolewski RC, Ho GP, Hung AY, Wills AM, Hayes MT, Macmore JP, Warren L, Bower PG, Langer CB, Kellerman LR, Humphreys CW, Glanz BI, Dielubanza EJ, Frosch MP, Freeman RL, Gibbons CH, Stefanova N, Chitnis T, Weiner HL, Scherzer CR, Scholz SW, Vuzman D, Cox LM, Wenning G, Schmahmann JD, Gupta AS, Novak P, Young GS, Feany MB, Singhal T, Khurana V. Ndayisaba A, et al. Among authors: vuzman d. Cerebellum. 2024 Feb;23(1):52-53. doi: 10.1007/s12311-022-01501-5. Cerebellum. 2024. PMID: 36456723 Free PMC article. No abstract available.
Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping.
Ndayisaba A, Pitaro AT, Willett AS, Jones KA, de Gusmao CM, Olsen AL, Kim J, Rissanen E, Woods JK, Srinivasan SR, Nagy A, Nagy A, Mesidor M, Cicero S, Patel V, Oakley DH, Tuncali I, Taglieri-Noble K, Clark EC, Paulson J, Krolewski RC, Ho GP, Hung AY, Wills AM, Hayes MT, Macmore JP, Warren L, Bower PG, Langer CB, Kellerman LR, Humphreys CW, Glanz BI, Dielubanza EJ, Frosch MP, Freeman RL, Gibbons CH, Stefanova N, Chitnis T, Weiner HL, Scherzer CR, Scholz SW, Vuzman D, Cox LM, Wenning G, Schmahmann JD, Gupta AS, Novak P, Young GS, Feany MB, Singhal T, Khurana V. Ndayisaba A, et al. Among authors: vuzman d. Cerebellum. 2024 Feb;23(1):31-51. doi: 10.1007/s12311-022-01471-8. Epub 2022 Oct 3. Cerebellum. 2024. PMID: 36190676 Free PMC article.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Ouahed J, et al. Among authors: vuzman d. J Crohns Colitis. 2021 Nov 8;15(11):1908-1919. doi: 10.1093/ecco-jcc/jjab077. J Crohns Colitis. 2021. PMID: 33891011 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.
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.
novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data.
Mohanty AK, Vuzman D, Francioli L, Cassa C; Brigham Genomic Medicine; Undiagnosed Diseases Network; Brigham and Women’s Hospital FaceBase Project; Toth-Petroczy A, Sunyaev S. Mohanty AK, et al. Among authors: vuzman d. Bioinformatics. 2019 Apr 1;35(7):1174-1180. doi: 10.1093/bioinformatics/bty749. Bioinformatics. 2019. PMID: 30169785 Free PMC article.
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.
Dual MAPK Inhibition Is an Effective Therapeutic Strategy for a Subset of Class II BRAF Mutant Melanomas.
Dankner M, Lajoie M, Moldoveanu D, Nguyen TT, Savage P, Rajkumar S, Huang X, Lvova M, Protopopov A, Vuzman D, Hogg D, Park M, Guiot MC, Petrecca K, Mihalcioiu C, Watson IR, Siegel PM, Rose AAN. Dankner M, et al. Among authors: vuzman d. Clin Cancer Res. 2018 Dec 15;24(24):6483-6494. doi: 10.1158/1078-0432.CCR-17-3384. Epub 2018 Jun 14. Clin Cancer Res. 2018. PMID: 29903896
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.
27 results