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

Year Number of Results
2002 2
2003 1
2004 3
2005 4
2006 3
2007 2
2008 2
2009 3
2010 5
2011 3
2012 2
2013 5
2014 5
2015 10
2016 9
2017 3
2018 5
2019 2
2020 5
2021 8
2022 10
2023 14
2024 3

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96 results

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Page 1
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Among authors: diaz ga. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470 Free PMC article.
Mitochondrial translation defects and human disease.
Webb BD, Diaz GA, Prasun P. Webb BD, et al. Among authors: diaz ga. J Transl Genet Genom. 2020;4:71-80. doi: 10.20517/jtgg.2020.11. Epub 2020 May 23. J Transl Genet Genom. 2020. PMID: 33426504 Free PMC article.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS, Marathe PN, Kelly NR, Bonini KE, Sebastin M, Odgis JA, Abhyankar A, Brown K, Di Biase M, Gallagher KM, Guha S, Ioele N, Okur V, Ramos MA, Rodriguez JE, Rehman AU, Thomas-Wilson A, Edelmann L, Zinberg RE, Diaz GA, Greally JM, Jobanputra V, Suckiel SA, Horowitz CR, Wasserstein MP, Kenny EE, Gelb BD. Abul-Husn NS, et al. Among authors: diaz ga. Genet Med. 2023 Sep;25(9):100880. doi: 10.1016/j.gim.2023.100880. Epub 2023 May 6. Genet Med. 2023. PMID: 37158195
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. Odgis JA, et al. Among authors: diaz ga. Am J Med Genet A. 2023 Mar;191(3):699-710. doi: 10.1002/ajmg.a.63062. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36563179 Free PMC article.
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA 3rd, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, McWhorter N, Kurtz C, Brennan AM. Vockley J, et al. Among authors: diaz ga. Nat Metab. 2023 Oct;5(10):1685-1690. doi: 10.1038/s42255-023-00897-6. Epub 2023 Sep 28. Nat Metab. 2023. PMID: 37770764 Clinical Trial.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Pearson NM, Stolte C, Shi K, Beren F, Abul-Husn NS, Bertier G, Brown K, Diaz GA, Odgis JA, Suckiel SA, Horowitz CR, Wasserstein M, Gelb BD, Kenny EE, Gagnon C, Jobanputra V, Bloom T, Greally JM. Pearson NM, et al. Among authors: diaz ga. Genet Med. 2021 Oct;23(10):1998-2002. doi: 10.1038/s41436-021-01219-5. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113009 Free PMC article.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 Free PMC article.
96 results