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Year | Number of Results |
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2021 | 1 |
2022 | 4 |
2023 | 1 |
2024 | 1 |
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Page 1
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
Dev Med Child Neurol. 2022 May;64(5):633-640. doi: 10.1111/dmcn.15109. Epub 2021 Nov 19.
Dev Med Child Neurol. 2022.
PMID: 35830182
Free article.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL.
Calhoun JD, et al. Among authors: gunti j.
Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451.
Brain. 2022.
PMID: 35773235
Free PMC article.
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Towards increased accuracy and reproducibility in SARS-CoV-2 next generation sequence analysis for public health surveillance.
Connor R, Yarmosh DA, Maier W, Shakya M, Martin R, Bradford R, Brister JR, Chain PS, Copeland CA, di Iulio J, Hu B, Ebert P, Gunti J, Jin Y, Katz KS, Kochergin A, LaRosa T, Li J, Li PE, Lo CC, Rashid S, Maiorova ES, Xiao C, Zalunin V, Pruitt KD.
Connor R, et al. Among authors: gunti j.
bioRxiv [Preprint]. 2022 Nov 3:2022.11.03.515010. doi: 10.1101/2022.11.03.515010.
bioRxiv. 2022.
PMID: 36380755
Free PMC article.
Updated.
Preprint.
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Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL.
Esterhuizen AI, et al. Among authors: gunti j.
Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8.
Genet Med. 2023.
PMID: 36480001
Free article.
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Recommendations for Uniform Variant Calling of SARS-CoV-2 Genome Sequence across Bioinformatic Workflows.
Connor R, Shakya M, Yarmosh DA, Maier W, Martin R, Bradford R, Brister JR, Chain PSG, Copeland CA, di Iulio J, Hu B, Ebert P, Gunti J, Jin Y, Katz KS, Kochergin A, LaRosa T, Li J, Li PE, Lo CC, Rashid S, Maiorova ES, Xiao C, Zalunin V, Purcell L, Pruitt KD.
Connor R, et al. Among authors: gunti j.
Viruses. 2024 Mar 11;16(3):430. doi: 10.3390/v16030430.
Viruses. 2024.
PMID: 38543795
Free PMC article.
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