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

Year Number of Results
1980 2
1982 1
2004 1
2005 1
2006 1
2007 5
2008 2
2009 4
2010 1
2011 3
2012 2
2013 4
2014 3
2015 4
2016 3
2017 4
2018 5
2019 7
2020 3
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2022 3
2023 9
2024 3

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67 results

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Page 1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: gonzalez em. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163
NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.
Clark KJ, Lubin EE, Gonzalez EM, Sangree AK, Layo-Carris DE, Durham EL, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJ. Clark KJ, et al. Among authors: gonzalez em. bioRxiv [Preprint]. 2024 Feb 4:2024.02.01.578438. doi: 10.1101/2024.02.01.578438. bioRxiv. 2024. PMID: 38352329 Free PMC article. Preprint.
Epidemiology Update of Hepatitis E Virus (HEV) in Uruguay: Subtyping, Environmental Surveillance and Zoonotic Transmission.
Cancela F, Icasuriaga R, Cuevas S, Hergatacorzian V, Olivera M, Panzera Y, Pérez R, López J, Borzacconi L, González E, Montaldo N, Gaitán M, López-Verges S, Bortagaray V, Victoria M, Colina R, Arbiza J, Berois M, Mirazo S. Cancela F, et al. Among authors: gonzalez e. Viruses. 2023 Sep 27;15(10):2006. doi: 10.3390/v15102006. Viruses. 2023. PMID: 37896784 Free PMC article. Review.
TBCK syndrome: a rare multi-organ neurodegenerative disease.
Durham EL, Angireddy R, Black A, Melendez-Perez A, Smith S, Gonzalez EM, Navarro KG, Díaz A, Bhoj EJK, Katsura KA. Durham EL, et al. Among authors: gonzalez em. Trends Mol Med. 2023 Oct;29(10):783-785. doi: 10.1016/j.molmed.2023.06.009. Epub 2023 Jul 14. Trends Mol Med. 2023. PMID: 37455236 Free PMC article.
Genome-wide pooled CRISPR screening in neurospheres.
Abid T, Goodale AB, Kalani Z, Wyatt M, Gonzalez EM, Zhou KN, Qian K, Novikov D, Condurat AL, Bandopadhayay P, Piccioni F, Persky NS, Root DE. Abid T, et al. Among authors: gonzalez em. Nat Protoc. 2023 Jul;18(7):2014-2031. doi: 10.1038/s41596-023-00835-6. Epub 2023 Jun 7. Nat Protoc. 2023. PMID: 37286821 Review.
Perinucleolar Compartment (PNC) Prevalence as an Independent Prognostic Factor in Pediatric Ewing Sarcoma: A Multi-Institutional Study.
Gonzalez E, Ahmed AA, McCarthy L, Chastain K, Habeebu S, Zapata-Tarres M, Cardenas-Cardos R, Velasco-Hidalgo L, Corcuera-Delgado C, Rodriguez-Jurado R, García-Rodríguez L, Parrales A, Iwakuma T, Farooqi MS, Lee B, Weir SJ, Flatt TG. Gonzalez E, et al. Cancers (Basel). 2023 Apr 10;15(8):2230. doi: 10.3390/cancers15082230. Cancers (Basel). 2023. PMID: 37190159 Free PMC article.
Wastewater surveillance of SARS-CoV-2 genomic populations on a country-wide scale through targeted sequencing.
Cancela F, Ramos N, Smyth DS, Etchebehere C, Berois M, Rodríguez J, Rufo C, Alemán A, Borzacconi L, López J, González E, Botto G, Thornhill SG, Mirazo S, Trujillo M. Cancela F, et al. Among authors: gonzalez e. PLoS One. 2023 Apr 21;18(4):e0284483. doi: 10.1371/journal.pone.0284483. eCollection 2023. PLoS One. 2023. PMID: 37083889 Free PMC article.
67 results