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Page 1
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Sheppard S, et al. Among authors: devkota b. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. Genet Med. 2018. PMID: 29907799 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: devkota b. 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.
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Mandl KD, et al. Among authors: devkota b. Genet Med. 2020 Feb;22(2):371-380. doi: 10.1038/s41436-019-0646-3. Epub 2019 Sep 4. Genet Med. 2020. PMID: 31481752 Free PMC article.
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Mandl KD, et al. Among authors: devkota b. Genet Med. 2020 Feb;22(2):449. doi: 10.1038/s41436-019-0711-y. Genet Med. 2020. PMID: 31772351 Free PMC article.
A Centralized Approach for Practicing Genomic Medicine.
Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID. Biswas S, et al. Among authors: devkota b. Pediatrics. 2020 Mar;145(3):e20190855. doi: 10.1542/peds.2019-0855. Epub 2020 Feb 26. Pediatrics. 2020. PMID: 32102930 Free PMC article.
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Ahmadmehrabi S, Li B, Park J, Devkota B, Vujkovic M, Ko YA, Van Wagoner D, Tang WHW, Krantz I, Ritchie M; Regeneron Genetics Center; Brant J, Ruckenstein MJ, Epstein DJ, Rader DJ. Ahmadmehrabi S, et al. Among authors: devkota b. Hum Genet. 2021 Jun;140(6):957-967. doi: 10.1007/s00439-021-02263-6. Epub 2021 Mar 21. Hum Genet. 2021. PMID: 33745059
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
NICUSeq Study Group; Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. NICUSeq Study Group, et al. Among authors: devkota b. JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496. JAMA Pediatr. 2021. PMID: 34570182 Free PMC article. Clinical Trial.
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick HL, Peranteau W, Krantz ID. Katz OL, et al. Among authors: devkota b. J Pediatr. 2022 Jul;246:251-265.e2. doi: 10.1016/j.jpeds.2022.03.023. Epub 2022 Mar 18. J Pediatr. 2022. PMID: 35314152 Review. No abstract available.
128 results