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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: gibson k. Am J Hum Genet. 2024 Jun 3:S0002-9297(24)00169-1. doi: 10.1016/j.ajhg.2024.05.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 38843839
Chest computed tomography provides more information than chest X-ray alone in determining extent of physiologic impairment in pulmonary sarcoidosis.
Benn BS, Lippitt W, Cortopassi I, G K B, Barbosa EM Jr, Drake WP, Herzog E, Gibson K, Chen ES, Koth LL, Fuhrman C, Lynch DA, Kaminski N, Wisniewski SR, Carlson NE, Maier LA. Benn BS, et al. Among authors: gibson k. Chest. 2024 Jun 1:S0012-3692(24)00674-3. doi: 10.1016/j.chest.2024.04.031. Online ahead of print. Chest. 2024. PMID: 38830401
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V, Leblebisatan G, Gürlek Gökçebay D, Güler S, Doğan ME, Tuğ Bozdoğan S, Koca Yozgat A, Özcan A, Pekpak Şahinoğlu E, Tokgöz H, Çil M, Özemri Sağ Ş, Yilmaz E, Şaşmaz Hİ, Evim MS, Akbayram S, Karadoğan M, Mutlu FT, Boğa İ, Yeter Doğan B, Yarali N, Çalişkan Ü, Bişgin A, Temel ŞG, Proven M, Gibson K, Demir BŞ, Saraçoğlu H, Eken A, Karakükçü Ç, Karakükçü M, Güneş AM, Özbek NY, Kilinç Y, Patiroğlu T, Özdemir MA, Roy NBA, Ünal E. Gök V, et al. Among authors: gibson k. Br J Haematol. 2024 May 29. doi: 10.1111/bjh.19575. Online ahead of print. Br J Haematol. 2024. PMID: 38811201
1,789 results