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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2011 1
2012 2
2013 1
2015 1
2016 2
2017 1
2019 4
2020 2
2021 2
2023 1
2024 0

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16 results

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Page 1
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
McInnes G, Sharo AG, Koleske ML, Brown JEH, Norstad M, Adhikari AN, Wang S, Brenner SE, Halpern J, Koenig BA, Magnus DC, Gallagher RC, Giacomini KM, Altman RB. McInnes G, et al. Among authors: adhikari an. Am J Hum Genet. 2021 Apr 1;108(4):535-548. doi: 10.1016/j.ajhg.2021.03.003. Am J Hum Genet. 2021. PMID: 33798442 Free PMC article. Review.
VIPdb, a genetic Variant Impact Predictor Database.
Hu Z, Yu C, Furutsuki M, Andreoletti G, Ly M, Hoskins R, Adhikari AN, Brenner SE. Hu Z, et al. Among authors: adhikari an. Hum Mutat. 2019 Sep;40(9):1202-1214. doi: 10.1002/humu.23858. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31283070 Free PMC article.
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.
Shigaki D, Adato O, Adhikari AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DD, Schubach M, Xiong C, Yan Z, Boyle AP, Kreimer A, Kulakovskiy IV, Reid J, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, Beer MA. Shigaki D, et al. Among authors: adhikari an. Hum Mutat. 2019 Sep;40(9):1280-1291. doi: 10.1002/humu.23797. Epub 2019 Jun 23. Hum Mutat. 2019. PMID: 31106481 Free PMC article.
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM. Punwani D, et al. Among authors: adhikari an. N Engl J Med. 2016 Dec 1;375(22):2165-2176. doi: 10.1056/NEJMoa1509164. N Engl J Med. 2016. PMID: 27959755 Free PMC article.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS. Kasak L, et al. Among authors: adhikari an. Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31322791 Free PMC article.
16 results