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Page 1
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.
Amarnani AA, Poladian KR, Marciano BE, Daub JR, Williams SG, Livinski AA, Hsu AP, Palmer CL, Kenney CM, Avila DN, Holland SM, Katz JD. Amarnani AA, et al. Among authors: williams sg. Sci Rep. 2020 May 20;10(1):8305. doi: 10.1038/s41598-020-64852-1. Sci Rep. 2020. PMID: 32433473 Free PMC article. Review.
The Autoantigen Repertoire and the Microbial RNP World.
Williams SG, Wolin SL. Williams SG, et al. Trends Mol Med. 2021 May;27(5):422-435. doi: 10.1016/j.molmed.2021.02.003. Epub 2021 Mar 12. Trends Mol Med. 2021. PMID: 33722441 Free PMC article. Review.
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: williams sg. Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. Am J Hum Genet. 2025. PMID: 39701103 Free article.
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: williams sg. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. Update in: Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007 PMID: 39371131 Free PMC article. Updated. Preprint.
Large left ventricular thrombus in a heavily trabeculated left ventricle.
Lamprou V, Williams SG, Alamgir R, Callan P. Lamprou V, et al. Among authors: williams sg. Oxf Med Case Reports. 2024 Aug 19;2024(8):omae087. doi: 10.1093/omcr/omae087. eCollection 2024 Aug. Oxf Med Case Reports. 2024. PMID: 39161848 Free PMC article. No abstract available.
420 results