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Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).
Genet Med. 2018 Sep;20(9):1077-1081. doi: 10.1038/gim.2017.228. Epub 2018 Jan 4.
Genet Med. 2018.
PMID: 29300373
Free PMC article.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R.
Scala M, et al. Among authors: biderman waberski m.
Brain. 2020 Apr 1;143(4):e31. doi: 10.1093/brain/awaa070.
Brain. 2020.
PMID: 32227164
Free PMC article.
No abstract available.
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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.
Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C; Italian Undiagnosed Diseases Network; Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC.
Laboy Cintron D, et al. Among authors: biderman waberski m.
HGG Adv. 2021 Nov 25;3(1):100072. doi: 10.1016/j.xhgg.2021.100072. eCollection 2022 Jan 13.
HGG Adv. 2021.
PMID: 35047857
Free PMC article.
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