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

Year Number of Results
2013 6
2014 84
2015 86
2016 59
2017 57
2018 62
2019 55
2020 54
2021 31
2022 11
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458 results
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Page 1
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
Insights into cerebellar development and connectivity.
Beckinghausen J, Sillitoe RV. Beckinghausen J, et al. Neurosci Lett. 2019 Jan 1;688:2-13. doi: 10.1016/j.neulet.2018.05.013. Epub 2018 May 7. Neurosci Lett. 2019. PMID: 29746896 Free PMC article. Review.
Consensus Paper: Cerebellar Development.
Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Dusart I, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, Marino S, Martinez S, Millen KJ, Millner TO, Miyata T, Parmigiani E, Schilling K, Sekerková G, Sillitoe RV, Sotelo C, Uesaka N, Wefers A, Wingate RJ, Hawkes R. Leto K, et al. Cerebellum. 2016 Dec;15(6):789-828. doi: 10.1007/s12311-015-0724-2. Cerebellum. 2016. PMID: 26439486 Free PMC article. Review.
Non-coding genetic variants in human disease.
Zhang F, Lupski JR. Zhang F, et al. Hum Mol Genet. 2015 Oct 15;24(R1):R102-10. doi: 10.1093/hmg/ddv259. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152199 Free PMC article. Review.
REV-ERB in GABAergic neurons controls diurnal hepatic insulin sensitivity.
Ding G, Li X, Hou X, Zhou W, Gong Y, Liu F, He Y, Song J, Wang J, Basil P, Li W, Qian S, Saha P, Wang J, Cui C, Yang T, Zou K, Han Y, Amos CI, Xu Y, Chen L, Sun Z. Ding G, et al. Nature. 2021 Apr;592(7856):763-767. doi: 10.1038/s41586-021-03358-w. Epub 2021 Mar 24. Nature. 2021. PMID: 33762728 Free PMC article.
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP. Gillentine MA, et al. J Autism Dev Disord. 2017 Mar;47(3):549-562. doi: 10.1007/s10803-016-2961-8. J Autism Dev Disord. 2017. PMID: 27853923 Free PMC article.
458 results