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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. Commun Biol. 2024. PMID: 38374434 Free PMC article.
A multi-stem cell basis for craniosynostosis and calvarial mineralization.
Bok S, Yallowitz AR, Sun J, McCormick J, Cung M, Hu L, Lalani S, Li Z, Sosa BR, Baumgartner T, Byrne P, Zhang T, Morse KW, Mohamed FF, Ge C, Franceschi RT, Cowling RT, Greenberg BH, Pisapia DJ, Imahiyerobo TA, Lakhani S, Ross ME, Hoffman CE, Debnath S, Greenblatt MB. Bok S, et al. Among authors: ross me. Nature. 2023 Sep;621(7980):804-812. doi: 10.1038/s41586-023-06526-2. Epub 2023 Sep 20. Nature. 2023. PMID: 37730988 Free PMC article.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium; Finnell RH, Ross ME, Copp AJ, Greene NDE. Crane-Smith Z, et al. Among authors: ross me. Hum Mol Genet. 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. Hum Mol Genet. 2023. PMID: 37364051 Free PMC article.
243 results