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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: smith s. Eur J Hum Genet. 2024 Aug;32(8):1032. doi: 10.1038/s41431-024-01659-y. Eur J Hum Genet. 2024. PMID: 39060653 Free PMC article. No abstract available.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: smith s. Eur J Hum Genet. 2024 Aug;32(8):928-937. doi: 10.1038/s41431-024-01610-1. Epub 2024 Apr 27. Eur J Hum Genet. 2024. PMID: 38678163 Free PMC article.
Urothelial carcinoma in situ with "early papillary formation" vs "lateral spread/shoulder lesion" of prior high-grade noninvasive papillary urothelial carcinoma: A survey of pathologist and urologist interpretations.
Sangoi AR, Shahabi A, Hirsch MS, Kao CS, Deebajah M, Barletta JA, Paner GP, Smith SC, Grignon DJ, Compérat E, Amin MB, Maclean F, Shah RB, Iczkowski KA, Delprado W, Cheng L, Pan CC, McKenney JK, Ro JY, Khani F, Montironi R, Robinson BD, Al-Ahmadie H, Epstein JI, Trpkov K, Tretiakova M, Shen SS, Alanee S, Weight CJ, Akgul M, Williamson SR. Sangoi AR, et al. Among authors: smith sc. Am J Clin Pathol. 2024 Dec 25:aqae167. doi: 10.1093/ajcp/aqae167. Online ahead of print. Am J Clin Pathol. 2024. PMID: 39720998
A neurodegenerative cellular stress response linked to dark microglia and toxic lipid secretion.
Flury A, Aljayousi L, Park HJ, Khakpour M, Mechler J, Aziz S, McGrath JD, Deme P, Sandberg C, González Ibáñez F, Braniff O, Ngo T, Smith S, Velez M, Ramirez DM, Avnon-Klein D, Murray JW, Liu J, Parent M, Mingote S, Haughey NJ, Werneburg S, Tremblay MÈ, Ayata P. Flury A, et al. Among authors: smith s. Neuron. 2024 Dec 19:S0896-6273(24)00875-4. doi: 10.1016/j.neuron.2024.11.018. Online ahead of print. Neuron. 2024. PMID: 39719704
Cup of Tea?
Smith SE. Smith SE. Acad Med. 2025 Jan 1;100(1):113. doi: 10.1097/ACM.0000000000005895. Epub 2024 Oct 10. Acad Med. 2025. PMID: 39718403 No abstract available.
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