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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: diamond t. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H. Strong A, et al. Among authors: diamond t. Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 7. Am J Med Genet A. 2021. PMID: 33960657 Free PMC article.
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.
Sutphen R, Diamond TM, Minton SE, Peacocke M, Tsou HC, Root AW. Sutphen R, et al. Among authors: diamond tm. Am J Med Genet. 1999 Feb 12;82(4):290-3. doi: 10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10051160
Hepatic Ciliopathy Syndromes.
Diamond T, Nema N, Wen J. Diamond T, et al. Clin Liver Dis (Hoboken). 2021 Oct 27;18(4):193-197. doi: 10.1002/cld.1114. eCollection 2021 Oct. Clin Liver Dis (Hoboken). 2021. PMID: 34745577 Free PMC article. Review.
338 results