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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
Curic E, Ewans L, Pysar R, Taylan F, Botto LD, Nordgren A, Gahl W, Palmer EE.
Curic E, et al. Among authors: pysar r.
Orphanet J Rare Dis. 2023 Nov 9;18(1):348. doi: 10.1186/s13023-023-02966-1.
Orphanet J Rare Dis. 2023.
PMID: 37946247
Free PMC article.
Review.
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Australian human research ethics committee members' confidence in reviewing genomic research applications.
Pysar R, Wallingford CK, Boyle J, Campbell SB, Eckstein L, McWhirter R, Terrill B, Jacobs C, McInerney-Leo AM.
Pysar R, et al.
Eur J Hum Genet. 2021 Dec;29(12):1811-1818. doi: 10.1038/s41431-021-00951-5. Epub 2021 Aug 26.
Eur J Hum Genet. 2021.
PMID: 34446835
Free PMC article.
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