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Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
Zhao M, Havrilla JM, Fang L, Chen Y, Peng J, Liu C, Wu C, Sarmady M, Botas P, Isla J, Lyon GJ, Weng C, Wang K. Zhao M, et al. Among authors: sarmady m. NAR Genom Bioinform. 2020 Jun;2(2):lqaa032. doi: 10.1093/nargab/lqaa032. Epub 2020 May 25. NAR Genom Bioinform. 2020. PMID: 32500119 Free PMC article.
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Wu C, Devkota B, Evans P, Zhao X, Baker SW, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock BL, Deardorff MA, Spinner NB, Krantz ID, Santani AB, Tayoun ANA, Sarmady M. Wu C, et al. Among authors: sarmady m. Eur J Hum Genet. 2019 Apr;27(4):612-620. doi: 10.1038/s41431-018-0328-7. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626929 Free PMC article.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. Murrell JR, et al. Among authors: sarmady m. J Mol Diagn. 2022 Mar;24(3):274-286. doi: 10.1016/j.jmoldx.2021.12.002. Epub 2022 Jan 19. J Mol Diagn. 2022. PMID: 35065284 Free PMC article.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. Gibson KM, et al. Among authors: sarmady m. Genet Med. 2018 Mar;20(3):329-336. doi: 10.1038/gim.2017.153. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29389922 Free article.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. Gibson KM, et al. Among authors: sarmady m. Genet Med. 2018 Nov;20(11):1486. doi: 10.1038/gim.2018.1. Genet Med. 2018. PMID: 29419820 Free article.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Lou M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. Gibson KM, et al. Among authors: sarmady m. Genet Med. 2018 Oct;20(10):1298. doi: 10.1038/gim.2017.264. Genet Med. 2018. PMID: 30377334 Free article.
33 results