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Page 1
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.
Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C; Moebius Syndrome Research Consortium. Sadeghi N, et al. Among authors: facio f. Brain Commun. 2020;2(1):fcaa014. doi: 10.1093/braincomms/fcaa014. Epub 2020 Feb 14. Brain Commun. 2020. PMID: 32328577 Free PMC article.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: facio fm. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Clinical Variant Reclassification in Hereditary Disease Genetic Testing.
Kobayashi Y, Chen E, Facio FM, Metz H, Poll SR, Swartzlander D, Johnson B, Aradhya S. Kobayashi Y, et al. Among authors: facio fm. JAMA Netw Open. 2024 Nov 4;7(11):e2444526. doi: 10.1001/jamanetworkopen.2024.44526. JAMA Netw Open. 2024. PMID: 39504018 Free PMC article.
Development of Leadership Skills in Medical Education: Protocol for a Scoping Review.
Chubaci EF, Costa CDDS, Santos Neto MFD, Dos Santos ER, Engel AMRPVTC, Costa ACDS, Silva TMD, Cristóvão HLG, Quitério AB, Lima ARA, Brienze VMS, Fácio FN Jr, André JC. Chubaci EF, et al. Among authors: facio fn jr. JMIR Res Protoc. 2024 Oct 22;13:e62810. doi: 10.2196/62810. JMIR Res Protoc. 2024. PMID: 39436686 Free PMC article.
Rare Case of Complete Androgen Insensitivity Syndrome.
Fava Spessoto LC, Avelino Silveira JS, Abularach AM, Santana Garcia G, Almeida MC, Gonzales GC, Nagle Spessoto AC, Facio FN Jr, Silva Faria MH. Fava Spessoto LC, et al. Among authors: facio fn jr. Cureus. 2024 Feb 20;16(2):e54550. doi: 10.7759/cureus.54550. eCollection 2024 Feb. Cureus. 2024. PMID: 38516495 Free PMC article.
A Rare Case of Spontaneous Steinstrasse.
Fava Spessoto LC, Aguiar RS, Gonzales GC, Spessoto ACN, Facio FN Jr. Fava Spessoto LC, et al. Among authors: facio fn jr. Cureus. 2023 Nov 29;15(11):e49641. doi: 10.7759/cureus.49641. eCollection 2023 Nov. Cureus. 2023. PMID: 38161807 Free PMC article.
Applications of artificial intelligence in clinical laboratory genomics.
Aradhya S, Facio FM, Metz H, Manders T, Colavin A, Kobayashi Y, Nykamp K, Johnson B, Nussbaum RL. Aradhya S, et al. Among authors: facio fm. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32057. doi: 10.1002/ajmg.c.32057. Epub 2023 Jul 28. Am J Med Genet C Semin Med Genet. 2023. PMID: 37507620 Review.
70 results