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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL, Schrier Vergano SA, Mazzola S, Strong A, Keena B, McDougall C, Ritter A, Li D, Bedoukian EC, Burke LW, Hoffman A, Zurcher V, Krantz ID, Izumi K, Bhoj E, Zackai EH, Deardorff MA. Cohen JL, et al. Among authors: bhoj e. Am J Med Genet A. 2020 Dec;182(12):2926-2938. doi: 10.1002/ajmg.a.61883. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043588
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. Wenger TL, et al. Among authors: bhoj e. Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123255
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. Wenger TL, et al. Among authors: bhoj e. Am J Med Genet A. 2015 Jul;167(7):1682-3. doi: 10.1002/ajmg.a.36860. Epub 2015 May 5. Am J Med Genet A. 2015. PMID: 26097173 No abstract available.
133 results