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DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: ross mj. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
COVID-19's Impact on Genetics at One Medical Center in New York.
Pereira EM; Columbia University Clinical Genetics Professionals; Chung WK. Pereira EM, et al. Genet Med. 2020 Sep;22(9):1467-1469. doi: 10.1038/s41436-020-0857-7. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499605 Free PMC article. No abstract available.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH. Banka S, et al. Among authors: ross m. Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049. Brain. 2022. PMID: 35139179 Free PMC article.
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J. Hernan R, et al. Patient Educ Couns. 2020 Jan;103(1):127-135. doi: 10.1016/j.pec.2019.08.018. Epub 2019 Aug 24. Patient Educ Couns. 2020. PMID: 31521424 Free PMC article. Clinical Trial.
Long-term impact of immediate versus deferred antiretroviral therapy on kidney health in people with HIV.
Pelchen-Matthews A, Mocroft A, Ryom L, Ross MJ, Sharma S, Coca S, Achhra A, Cornell E, Tracy R, Phillips A, Alonso MM, Toulomi G, Agan BK, Medland N, Wyatt CM; INSIGHT START Study Group. Pelchen-Matthews A, et al. Among authors: ross mj. Kidney Int. 2024 Apr 30:S0085-2538(24)00313-2. doi: 10.1016/j.kint.2024.04.010. Online ahead of print. Kidney Int. 2024. PMID: 38697479
Effect of decentralising childhood tuberculosis diagnosis to primary health centre versus district hospital levels on disease detection in children from six high tuberculosis incidence countries: an operational research, pre-post intervention study.
Wobudeya E, Nanfuka M, Ton Nu Nguyet MH, Taguebue JV, Moh R, Breton G, Khosa C, Borand L, Mwanga-Amumpaire J, Mustapha A, Nolna SK, Komena E, Mugisha JR, Natukunda N, Dim B, de Lauzanne A, Cumbe S, Balestre E, Poublan J, Lounnas M, Ngu E, Joshi B, Norval PY, Terquiem EL, Turyahabwe S, Foray L, Sidibé S, Albert KK, Manhiça I, Sekadde M, Detjen A, Verkuijl S, Mao TE, Orne-Gliemann J, Bonnet M, Marcy O; TB-Speed Decentralisation study group. Wobudeya E, et al. EClinicalMedicine. 2024 Mar 21;70:102527. doi: 10.1016/j.eclinm.2024.102527. eCollection 2024 Apr. EClinicalMedicine. 2024. PMID: 38685921 Free PMC article.
170 results