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Page 1
Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders.
Sun B, Stamou MI, Stockman SL, Campbell MB, Plummer L, Salnikov KB, Kotan LD, Topaloglu AK, Hisama FM, Davis EE, Seminara SB, Balasubramanian R. Sun B, et al. Among authors: davis ee. J Clin Endocrinol Metab. 2024 Sep 18:dgae620. doi: 10.1210/clinem/dgae620. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39290158
TNF promoter hypomethylation is associated with mucosal inflammation in IBD and anti-TNF response.
Levic DS, Niedzwiecki D, Kandakatla A, Karlovich NS, Juneja A, Park J, Stolarchuk C, Adams S, Willer JR, Schaner MR, Lian G, Beasley C, Marjoram L, Flynn AD, Valentine JF, Onken JE, Sheikh SZ, Davis EE, Evason KJ, Garman KS, Bagnat M. Levic DS, et al. Among authors: davis ee. medRxiv [Preprint]. 2024 Feb 6:2024.02.05.24302343. doi: 10.1101/2024.02.05.24302343. medRxiv. 2024. Update in: Gastro Hep Adv. 2024 Jun 27;3(7):888-898. doi: 10.1016/j.gastha.2024.06.010 PMID: 38370739 Free PMC article. Updated. Preprint.
TNF Promoter Hypomethylation Is Associated With Mucosal Inflammation in IBD and Anti-TNF Response.
Levic DS, Niedzwiecki D, Kandakatla A, Karlovich NS, Juneja A, Park J, Stolarchuk C, Adams S, Willer JR, Schaner MR, Lian G, Beasley C, Marjoram L, Flynn AD, Valentine JF, Onken JE, Sheikh SZ, Davis EE, Evason KJ, Garman KS, Bagnat M. Levic DS, et al. Among authors: davis ee. Gastro Hep Adv. 2024 Jun 27;3(7):888-898. doi: 10.1016/j.gastha.2024.06.010. eCollection 2024. Gastro Hep Adv. 2024. PMID: 39286616 Free PMC article.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F; Undiagnosed Diseases Network; Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Willim J, et al. Among authors: davis ee. Nat Commun. 2024 Sep 10;15(1):7909. doi: 10.1038/s41467-024-52095-x. Nat Commun. 2024. PMID: 39256359 Free PMC article.
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
Fellmann F, Saunders C, O'Donohue MF, Reid DW, McFadden KA, Montel-Lehry N, Yu C, Fang M, Zhang J, Royer-Bertrand B, Farinelli P, Karboul N, Willer JR, Fievet L, Bhuiyan ZA, Kleinhenz AL, Jadeau J, Fulbright J, Rivolta C, Renella R, Katsanis N, Beckmann JS, Nicchitta CV, Da Costa L, Davis EE, Gleizes PE. Fellmann F, et al. Among authors: davis ee. JCI Insight. 2024 Aug 1;9(17):e172475. doi: 10.1172/jci.insight.172475. JCI Insight. 2024. PMID: 39088281 Free PMC article.
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH. Roychaudhury A, et al. Among authors: davis ee. Ann Neurol. 2024 Nov;96(5):914-931. doi: 10.1002/ana.27037. Epub 2024 Jul 29. Ann Neurol. 2024. PMID: 39073169 Free article.
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling.
Chapman KA, Ullah F, Yahiku ZA, Kodiparthi SV, Kellaris G, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Salpietro V, Striano P, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR. Chapman KA, et al. Among authors: davis ee. medRxiv [Preprint]. 2024 Jul 1:2024.06.27.24309417. doi: 10.1101/2024.06.27.24309417. medRxiv. 2024. PMID: 39006436 Free PMC article. Preprint.
183 results