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

Year Number of Results
2004 1
2005 1
2006 2
2007 1
2008 1
2009 1
2010 3
2011 3
2013 4
2014 2
2015 3
2016 2
2017 4
2018 7
2019 5
2020 16
2021 24
2022 15
2023 34
2024 17

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131 results

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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT, Head E, Mapstone ME, Schupf N, Lee JH, Barral S; Long‐Life Family Study (LLFS); Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS). Xicota L, et al. Alzheimers Dement. 2024 Apr;20(4):2670-2679. doi: 10.1002/alz.13718. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380866 Free PMC article.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Krumm L, et al. Among authors: jayadev s. Acta Neuropathol. 2024 Feb 2;147(1):28. doi: 10.1007/s00401-023-02675-w. Acta Neuropathol. 2024. PMID: 38305941 Free PMC article.
131 results