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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebaoui S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basúz C, Spataro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D'Gama AM, Valentine R, Trowbridge SK, Murali CN, Franciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. Zerafati-Jahromi G, et al. Among authors: valentine r. Am J Hum Genet. 2025 Jan 23:S0002-9297(25)00001-1. doi: 10.1016/j.ajhg.2025.01.001. Online ahead of print. Am J Hum Genet. 2025. PMID: 39879987 Free article.
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.
Akula SK, Quiroz V, D'Gama AM, Chiu MY, Koh HY, Saffari A, Zaman Z, Tam A, Srouji R, Valentine R, Wiltrout K, Pinto A, Harini C, Pearl PL, Poduri A, Ebrahimi-Fakhari D. Akula SK, et al. Among authors: valentine r. Ann Clin Transl Neurol. 2024 Jun;11(6):1643-1647. doi: 10.1002/acn3.52055. Epub 2024 May 6. Ann Clin Transl Neurol. 2024. PMID: 38711225 Free PMC article.
Single drop cytometry onboard the International Space Station.
Rea DJ, Miller RS, Crucian BE, Valentine RW, Cristoforetti S, Bearg SB, Sipic Z, Cheng J, Yu R, Calaway KM, Eames D, Nelson ES, Lewandowski BE, Perusek GP, Chan EY. Rea DJ, et al. Among authors: valentine rw. Nat Commun. 2024 Mar 25;15(1):2634. doi: 10.1038/s41467-024-46483-6. Nat Commun. 2024. PMID: 38528030 Free PMC article.
620 results