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Page 1
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: basel d. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: basel dg. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380 Free PMC article.
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: basel d. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
113 results