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

Year Number of Results
1996 1
1997 1
1999 1
2001 1
2006 1
2007 2
2008 3
2009 1
2010 1
2011 3
2012 3
2013 3
2014 4
2015 2
2016 2
2017 1
2018 2
2019 4
2021 1
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2023 2
2024 2

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Page 1
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Genet Med. 2024 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. Genet Med. 2024. PMID: 38334070 Free article.
CRISPR knockout screen implicates three genes in lysosome function.
Lenk GM, Park YN, Lemons R, Flynn E, Plank M, Frei CM, Davis MJ, Gregorka B, Swanson JA, Meisler MH, Kitzman JO. Lenk GM, et al. Sci Rep. 2019 Jul 3;9(1):9609. doi: 10.1038/s41598-019-45939-w. Sci Rep. 2019. PMID: 31270356 Free PMC article.
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
40 results