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Page 1
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
De Hayr L, Blok LER, Dias KR, Long J, Begemann A, Moir RD, Willis IM, Mocera M, Siegel G, Steindl K, Evans CA, Zhu Y, Zhang F, Field M, Ma A, Adès L, Josephi-Taylor S, Pfundt R, Zaki MS, Tomoum H, Gregor A, Laube J, Reis A, Maddirevula S, Hashem MO, Zweier M, Alkuraya FS, Maroofian R, Buckley MF, Gleeson JG, Zweier C, Coll-Tané M, Koolen DA, Rauch A, Roscioli T, Schenck A, Harvey RJ. De Hayr L, et al. Among authors: siegel g. Genet Med. 2024 Nov 7:101253. doi: 10.1016/j.gim.2024.101253. Online ahead of print. Genet Med. 2024. PMID: 39636576 Free article.
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.
Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, Li D, Zackai E, Vetro A, Barba C, Guerrini R, Whalen S, Keren B, Khan A, Jing D, Palomares Bralo M, Rikeros Orozco E, Hao Q, Schlott Kristiansen B, Zheng B, Donnelly D, Clowes V, Zweier M, Papik M, Siegel G, Sabatino V, Mocera M, Horn AHC, Sticht H, Rauch A. Boonsawat P, et al. Among authors: siegel g. Am J Hum Genet. 2024 Sep 5;111(9):1994-2011. doi: 10.1016/j.ajhg.2024.07.016. Epub 2024 Aug 20. Am J Hum Genet. 2024. PMID: 39168120 Free PMC article.
Amputation Surgery: Review of New and Emerging Techniques.
Hooper RC, Kelly B, Cederna PS, Siegel G. Hooper RC, et al. Among authors: siegel g. Phys Med Rehabil Clin N Am. 2024 Nov;35(4):725-737. doi: 10.1016/j.pmr.2024.06.001. Epub 2024 Jul 23. Phys Med Rehabil Clin N Am. 2024. PMID: 39389633 Review.
Reliability and reproducibility of the venous excess ultrasound (VExUS) score, a multi-site prospective study: validating a novel ultrasound technique for comprehensive assessment of venous congestion.
Longino AA, Martin KC, Leyba KR, McCormack L, Siegel G, Sharma VM, Riscinti M, Lopez CO, Douglas IS, Gill EA. Longino AA, et al. Among authors: siegel g. Crit Care. 2024 Jun 11;28(1):197. doi: 10.1186/s13054-024-04961-9. Crit Care. 2024. PMID: 38858766 Free PMC article.
Controversies in orthopaedic oncology.
Jeys LM, Thorkildsen J, Kurisunkal V, Puri A, Ruggieri P, Houdek MT, Boyle RA, Ebeid W, Botello E, Morris GV; BOOM Consensus Scientific Committee; Laitinen MK; BOOM Consensus Scientific Committee; Abudu A, Ae K, Agarwal M, Ajit Singh V, Akiyama T, Albergo JI, Alexander J, Alpan B, Aoude A, Asavamongkolkul A, Aston W, Baad-Hansen T, Balach T, Benevenia J, Bergh P, Bernthal N, Binitie O, Boffano M, Bramer J, Branford White H, Brennan B, Cabrolier J, Calvo Haro JA, Campanacci DA, Cardoso R, Carey Smith R, Casales Fresnga N, Casanova JM, Ceballos O, Chan CM, Chung YG, Clara-Altamirano MA, Cribb G, Dadia S, Dammerer D, de Vaal M, Delgado Obando J, Deo S, Di Bella C, Donati DM, Endo M, Eralp L, Erol B, Evans S, Eward W, Fiorenza F, Freitas J, Funovics PT, Galli Serra M, Ghert M, Ghosh K, Gomez Mier LC, Gomez Vallejo J, Griffin A, Gulia A, Guzman M, Hardes J, Healey J, Hernandez A, Hesla A, Hongsaprabhas C, Hornicek F, Hosking K, Iwata S, Jagiello J, Johnson L, Johnston A, Joo MW, Jutte P, Kapanci B, Khan Z, Kobayashi H, Kollender Y, Koob S, Kotrych D, Le Nail LR, Legosz P, Lehner B, Leithner A, Lewis V, Lin P, Linares F, Lozano Calderon S, Mahendra A, Mahyudin F, Mascard E, Mattei JC, M… See abstract for full author list ➔ Jeys LM, et al. Among authors: siegel g. Bone Joint J. 2024 May 1;106-B(5):425-429. doi: 10.1302/0301-620X.106B5.BJJ-2023-1381. Bone Joint J. 2024. PMID: 38689572
A skeleton in a huff: insights in etiologies of osteosclerosis.
Chen Z, Akanbi F, Lucas DR, Walton DM, Benavides E, Soki FN, Siegel GW, McCauley LK, Clines GA. Chen Z, et al. Among authors: siegel gw. J Bone Miner Res. 2024 Mar 22;39(2):79-84. doi: 10.1093/jbmr/zjad021. J Bone Miner Res. 2024. PMID: 38477819
The Musculoskeletal Tumor Society Clinical Practice Guideline on the Management of Metastatic Humeral Disease.
Tedesco NS, Mesko N, Wodajo F; Management of Metastatic Humeral Disease Work Group; Staff of the American Academy of Orthopaedic Surgeons and the Musculoskeletal Tumor Society; Management of Metastatic Humeral Disease Work Group and Staff of the American Academy of Orthopaedic Surgeons and the Musculoskeletal Tumor Society. Tedesco NS, et al. J Am Acad Orthop Surg. 2024 May 15;32(10):e482-e488. doi: 10.5435/JAAOS-D-24-00053. Epub 2024 Mar 5. J Am Acad Orthop Surg. 2024. PMID: 38442357
Proposal for standardized ultrasound analysis of the salivary glands: Part 1 submandibular gland.
Hoffman HT, Koch M, Witt RL, Ryan WR, Zenk J, Katz P, Rahmati R, Rassekh C, Donato F, McCulloch TM, Joshi AS, Chang JL, Gillespie MB, Pichardo PFA, Orloff LA, Marcelino A, Wenzel P, Cohen D, Fundakowski CE, Cognetti DM, Walvekar RR, Bertelli A, Quon H, Anderson C, Policeni B, Siegel G. Hoffman HT, et al. Among authors: siegel g. Laryngoscope Investig Otolaryngol. 2024 Feb 14;9(1):e1224. doi: 10.1002/lio2.1224. eCollection 2024 Feb. Laryngoscope Investig Otolaryngol. 2024. PMID: 38362174 Free PMC article.
375 results