Publication Directory

Explore 709 peer-reviewed journal articles based on All of Us data

Looking for other kinds of publications? Our expanded catalog also includes news, pre-prints, abstracts, and other articles related to the program.

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D’Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D’Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O’Donoghue M, O’Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O’Donnell-Luria A, Whiffin N. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. PMID: 38991538; PMCID: PMC11338827.

July 11, 2024

Elucidating the influences of social determinants of health on perceived overall health among African American/Black and Hispanic ovarian cancer survivors using the NIH All of Us Research Program

Elucidating the influences of social determinants of health on perceived overall health among African American/Black and Hispanic ovarian cancer survivors using the NIH All of Us Research Program

Mahoney DE, Mukherjee R, Thompson J. Gynecol Oncol. 2024 Jul 9;189:24-29. doi: 10.1016/j.ygyno.2024.06.027. Epub ahead of print. PMID: 38986176.

July 9, 2024

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