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PubMed (cited) for id: 617431

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
Cholestasis Due to USP53 Deficiency.
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. Bull LN, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. J Pediatr Gastroenterol Nutr. 2021. PMID: 33075013 Free PMC article.
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS. Maddirevula S, et al. Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25. Genet Med. 2019. PMID: 30250217 Free article.
Progressive Hearing Loss in Mice Carrying a Mutation in Usp53.
Kazmierczak M, Harris SL, Kazmierczak P, Shah P, Starovoytov V, Ohlemiller KK, Schwander M. Kazmierczak M, et al. J Neurosci. 2015 Nov 25;35(47):15582-98. doi: 10.1523/JNEUROSCI.1965-15.2015. J Neurosci. 2015. PMID: 26609154 Free PMC article.