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

Year Number of Results
2009 1
2010 1
2011 2
2013 2
2014 5
2015 5
2016 5
2017 5
2018 7
2019 3
2020 4
2021 3
2023 1
2024 0

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39 results

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Page 1
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, Dodson J, Venugopal P, Brzezinski M, Llaci L, Gerald B, Mills G, Sanchez-Castillo M, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Naymik M, Schrauwen I, Craig DW, Piras IS, Huentelman MJ, Schork NJ, Narayanan V, Rangasamy S. Frankel E, et al. Among authors: siniard al. Cells. 2023 May 21;12(10):1437. doi: 10.3390/cells12101437. Cells. 2023. PMID: 37408271 Free PMC article.
Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes.
Hutchins E, Reiman R, Winarta J, Beecroft T, Richholt R, De Both M, Shahbander K, Carlson E, Janss A, Siniard A, Balak C, Bruhns R, Whitsett TG, McCoy R, Anastasi M, Allen A, Churas B, Huentelman M, Van Keuren-Jensen K. Hutchins E, et al. Among authors: siniard a. Sci Data. 2021 Oct 28;8(1):276. doi: 10.1038/s41597-021-01056-w. Sci Data. 2021. PMID: 34711851 Free PMC article.
DNA Methylation and Expression Profiles of Whole Blood in Parkinson's Disease.
Henderson AR, Wang Q, Meechoovet B, Siniard AL, Naymik M, De Both M, Huentelman MJ, Caselli RJ, Driver-Dunckley E, Dunckley T. Henderson AR, et al. Among authors: siniard al. Front Genet. 2021 Apr 26;12:640266. doi: 10.3389/fgene.2021.640266. eCollection 2021. Front Genet. 2021. PMID: 33981329 Free PMC article.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S; UCLA Clinical Genomics Center. Szelinger S, et al. Among authors: siniard al. Neurol Genet. 2020 Jun 30;6(4):e468. doi: 10.1212/NXG.0000000000000468. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754643 Free PMC article.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, Narayanan V, Schrauwen I, Rangasamy S. Llaci L, et al. Among authors: siniard al. Hum Genet. 2019 Dec;138(11-12):1409-1417. doi: 10.1007/s00439-019-02077-7. Epub 2019 Nov 20. Hum Genet. 2019. PMID: 31748968
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
39 results