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Page 1
Neuroimaging Findings in US Government Personnel and Their Family Members Involved in Anomalous Health Incidents.
Pierpaoli C, Nayak A, Hafiz R, Irfanoglu MO, Chen G, Taylor P, Hallett M, Hoa M, Pham D, Chou YY, Moses AD, van der Merwe AJ, Lippa SM, Brewer CC, Zalewski CK, Zampieri C, Turtzo LC, Shahim P, Chan L; NIH AHI Intramural Research Program Team; Moore B, Stamps L, Flynn S, Fontana J, Tata S, Lo J, Fernandez MA, Lori-Joseph A, Matsubara J, Goldberg J, Nguyen TD, Sasson N, Lely J, Smith B, King KA, Chisholm J, Christensen J, Magone MT, Cousineau-Krieger C, French LM, Yonter S, Attaripour S, Lai C. Pierpaoli C, et al. Among authors: brewer cc. JAMA. 2024 Apr 2;331(13):1122-1134. doi: 10.1001/jama.2024.2424. JAMA. 2024. PMID: 38497822
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P, Farmer C, Johnston J, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan C, Myles J, Nicoli ER, Rothermel CE, Algarin YM, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier D, Brooks B, Baker E, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. medRxiv [Preprint]. 2024 Jan 4:2024.01.04.24300778. doi: 10.1101/2024.01.04.24300778. medRxiv. 2024. PMID: 38313286 Free PMC article. Updated. Preprint.
Clinical, Biomarker, and Research Tests Among US Government Personnel and Their Family Members Involved in Anomalous Health Incidents.
Chan L, Hallett M, Zalewski CK, Brewer CC, Zampieri C, Hoa M, Lippa SM, Fitzgibbon E, French LM, Moses AD, van der Merwe AJ, Pierpaoli C, Turtzo LC, Yonter S, Shahim P; NIH AHI Intramural Research Program Team; Moore B, Stamps L, Flynn S, Fontana J, Tata S, Lo J, Fernandez MA, Joseph AL, Matsubara J, Goldberg J, Nguyen TD, Sasson N, Lely J, Smith B, King KA, Chisholm J, Christensen J, Magone MT, Cousineau-Krieger C, Hafiz R, Nayak A, Irfanoglu O, Attaripour S, Lai C, Smith WB. Chan L, et al. Among authors: brewer cc. JAMA. 2024 Apr 2;331(13):1109-1121. doi: 10.1001/jama.2024.2413. JAMA. 2024. PMID: 38497797
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ. Roux I, et al. Among authors: brewer cc. Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5. Hum Genet. 2023. PMID: 37668839 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: brewer cc. 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.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: brewer cc. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
90 results