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

Year Number of Results
2010 4
2011 6
2012 5
2013 15
2014 6
2015 6
2016 9
2017 7
2018 2
2019 8
2020 10
2021 15
2022 7
2023 8
2024 0

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92 results

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Page 1
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Tau activation of microglial cGAS-IFN reduces MEF2C-mediated cognitive resilience.
Udeochu JC, Amin S, Huang Y, Fan L, Torres ERS, Carling GK, Liu B, McGurran H, Coronas-Samano G, Kauwe G, Mousa GA, Wong MY, Ye P, Nagiri RK, Lo I, Holtzman J, Corona C, Yarahmady A, Gill MT, Raju RM, Mok SA, Gong S, Luo W, Zhao M, Tracy TE, Ratan RR, Tsai LH, Sinha SC, Gan L. Udeochu JC, et al. Nat Neurosci. 2023 May;26(5):737-750. doi: 10.1038/s41593-023-01315-6. Epub 2023 Apr 24. Nat Neurosci. 2023. PMID: 37095396 Free PMC article.
A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.
Pao PC, Seo J, Lee A, Kritskiy O, Patnaik D, Penney J, Raju RM, Geigenmuller U, Silva MC, Lucente DE, Gusella JF, Dickerson BC, Loon A, Yu MX, Bula M, Yu M, Haggarty SJ, Tsai LH. Pao PC, et al. Proc Natl Acad Sci U S A. 2023 Apr 18;120(16):e2217864120. doi: 10.1073/pnas.2217864120. Epub 2023 Apr 12. Proc Natl Acad Sci U S A. 2023. PMID: 37043533 Free PMC article.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F. Majmundar AJ, et al. Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6. Genet Med. 2023. PMID: 36571463 Free PMC article.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt F. Klämbt V, et al. J Am Soc Nephrol. 2023 Feb 1;34(2):273-290. doi: 10.1681/ASN.2022010050. Epub 2023 Nov 22. J Am Soc Nephrol. 2023. PMID: 36414417 Free PMC article.
An Evidence-Based Guideline Improves Outcomes for Patients With Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome.
Taylor ML, Hoyt KJ, Han J, Benson L, Case S, Chandler MT, Chang MH, Platt C, Cohen EM, Day-Lewis M, Dedeoglu F, Gorman M, Hausmann JS, Janssen E, Lee PY, Lo J, Priebe GP, Lo MS, Meidan E, Nigrovic PA, Roberts JE, Son MBF, Sundel RP, Alfieri M, Yeun JC, Shobiye DM, Degar B, Chang JC, Halyabar O, Hazen MM, Henderson LA. Taylor ML, et al. J Rheumatol. 2022 Sep;49(9):1042-1051. doi: 10.3899/jrheum.211219. Epub 2022 Jul 15. J Rheumatol. 2022. PMID: 35840156 Free PMC article.
92 results