Abreo TJ, Thompson EC, Madabushi A, Park KL, Soh H, Varghese N, Vanoye CG, Springer K, Johnson J, Sims S, Ji Z, Chavez AG, Jankovic MJ, Habte B, Zuberi AR, Lutz CM, Wang Z, Krishnan V, Dudler L, Einsele-Scholz S, Noebels JL, George AL, Maheshwari A, Tzingounis A, Cooper EC. Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy. Elife. 2025 Jan 06; 13.

Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Rashidi-Nezhad A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer Zohour M, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Elias Maia R, Mansoor S, Jain V, Tawde S, Challa VSR, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, ElAwady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Carr L, Kanani F, Beecroft F, Hane L, Abdelkreem E, Macek M, Bispo L, Elmaksoud MA, Hashemi-Gorji F, Pehlivan D, Amor DJ, Jamra RA, Chung WK, Ghayoor Karimiani E, Campeau PM, Alkuraya FS, Pagnamenta AT, Gleeson JG, Lupski JR, Striano P, Moreno-De-Luca A, Lafontaine DLJ, Houlden H, Maroofian R. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.

Jiang B, Ozkara BB, Zhu G, Boothroyd D, Allen JW, Barboriak DP, Chang P, Chan C, Chaudhari R, Chen H, Chukus A, Ding V, Douglas D, Filippi CG, Flanders AE, Godwin R, Hashmi S, Hess C, Hsu K, Lui YW, Maldjian JA, Michel P, Nalawade SS, Patel V, Raghavan P, Sair HI, Tanabe J, Welker K, Whitlow CT, Zaharchuk G, Wintermark M. Assessing the Performance of Artificial Intelligence Models: Insights from the American Society of Functional Neuroradiology Artificial Intelligence Competition. AJNR Am J Neuroradiol. 2024 Sep 09; 45(9):1276-1283.

Kim U, Perzia B, Kulkarni P, Rajiniganth M, Sundar B, Robin AL, Garg Shukla A, Maeng MM. COVID-19-associated rhino-orbito-cerebral mucormycosis: a single center prospective study of 264 patients. Orbit. 2025 Feb; 44(1):24-33.

Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, Ipek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G, Arnesen T, Houlden H. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nat Commun. 2024 Mar 13; 15(1):2269.

Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.

Flarity K, Haylett WJ, Childers M. Content Validation of an Emergency Department Skin Risk Assessment Instrument. Adv Emerg Nurs J. 2023 Oct-Dec 01; 45(4):311-320.

Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. Dev Med Child Neurol. 2024 Apr; 66(4):456-468.

Palanki R, Bose SK, Dave A, White BM, Berkowitz C, Luks V, Yaqoob F, Han E, Swingle KL, Menon P, Hodgson E, Biswas A, Billingsley MM, Li L, Yiping F, Carpenter M, Trokhan A, Yeo J, Johana N, Wan TY, Alameh MG, Bennett FC, Storm PB, Jain R, Chan J, Weissman D, Mitchell MJ, Peranteau WH. Ionizable Lipid Nanoparticles for Therapeutic Base Editing of Congenital Brain Disease. ACS Nano. 2023 07 25; 17(14):13594-13610.

Sanchez-Pinto LN, Bennett TD, Stroup EK, Luo Y, Atreya M, Bubeck Wardenburg J, Chong G, Geva A, Faustino EVS, Farris RW, Hall MW, Rogerson C, Shah SS, Weiss SL, Khemani RG. Derivation, Validation, and Clinical Relevance of a Pediatric Sepsis Phenotype With Persistent Hypoxemia, Encephalopathy, and Shock. Pediatr Crit Care Med. 2023 Oct 01; 24(10):795-806.