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Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Giampietro PF, et al. Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348728
Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC).
Kaye CI, Laxova R, Livingston JE, Lloyd-Puryear MA, Mann M, McCabe ER, Therrell BL; Genetics Advisory Committee, National Newborn Screening and Geneitcs Resource Center. Kaye CI, et al. Among authors: livingston je. Community Genet. 2001;4(3):175-96. doi: 10.1159/000051179. Community Genet. 2001. PMID: 14960911 No abstract available.
A study of spontaneously aborted twins.
Livingston JE, Poland BJ. Livingston JE, et al. Teratology. 1980 Apr;21(2):139-48. doi: 10.1002/tera.1420210202. Teratology. 1980. PMID: 7394716