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Results by year

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

Year Number of Results
1967 2
1968 1
1972 1
1974 2
1982 1
1985 1
1986 1
1987 1
1988 1
1993 2
1996 1
1998 1
1999 4
2000 4
2001 3
2002 2
2003 1
2004 4
2005 5
2006 5
2007 2
2008 2
2009 4
2010 5
2011 6
2012 5
2013 15
2014 12
2015 12
2016 16
2017 7
2018 9
2019 4
2020 7
2021 14
2022 18
2023 21
2024 3

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186 results

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Page 1
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Bonini KE, Thomas-Wilson A, Marathe PN, Sebastin M, Odgis JA, Di Biase M, Kelly NR, Ramos MA, Insel BJ, Scarimbolo L, Rehman AU, Guha S, Okur V, Abhyankar A, Phadke S, Nava C, Gallagher KM, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Horowitz CR, Kenny EE, Wasserstein M, Gelb BD, Jobanputra V. Bonini KE, et al. Among authors: diaz ga. Clin Genet. 2023 Aug;104(2):210-225. doi: 10.1111/cge.14365. Epub 2023 Jun 19. Clin Genet. 2023. PMID: 37334874
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.
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.
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.
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.
Phytohormones Trigger Drought Tolerance in Crop Plants: Outlook and Future Perspectives.
Iqbal S, Wang X, Mubeen I, Kamran M, Kanwal I, Díaz GA, Abbas A, Parveen A, Atiq MN, Alshaya H, Zin El-Abedin TK, Fahad S. Iqbal S, et al. Among authors: diaz ga. Front Plant Sci. 2022 Jan 13;12:799318. doi: 10.3389/fpls.2021.799318. eCollection 2021. Front Plant Sci. 2022. PMID: 35095971 Free PMC article. Review.
186 results