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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman N. Tatton-Brown K, et al. Among authors: prada c. Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29900417 Free PMC article.
Dandy-Walker malformation in an individual with ABL1 variant.
Garzon JP, Pardo AC, Raski CR, Prada CE. Garzon JP, et al. Among authors: prada ce. Am J Med Genet A. 2024 May 17:e63718. doi: 10.1002/ajmg.a.63718. Online ahead of print. Am J Med Genet A. 2024. PMID: 38760987
Aminotransferase trends in propionic acidemia.
Silva MP, Raski CR, Charrow J, Baker JJ, Prada CE. Silva MP, et al. Among authors: prada ce. Am J Med Genet A. 2024 May 9:e63659. doi: 10.1002/ajmg.a.63659. Online ahead of print. Am J Med Genet A. 2024. PMID: 38722054
314 results