Barbara K Burton

  • 6056 Citations
1973 …2019
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Research Output 1973 2019

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Letter
2017
3 Citations (Scopus)

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie-Rosell, A., Burton, B. K., Kim, K. H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B. & 5 others, Guillen Sacoto, M. J., Wentzensen, I. M., McLaughlin, H. M., McKnight, D. & Chung, W. K., Aug 1 2017, In : Clinical Genetics. 92, 2, p. 221-223 3 p.

Research output: Contribution to journalLetter

2011

Reply

Burton, B. K., Adams, D. J., Grange, D. K., Malone, J. I., Jurecki, E., Bausell, H., Marra, K. D., Sprietsma, L. & Swan, K. T., May 1 2011, In : Journal of Pediatrics. 158, 5, p. 864-865 2 p.

Research output: Contribution to journalLetter

2006
9 Citations (Scopus)

Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

Baris, H., Bejjani, B. A., Tan, W. H., Coulter, D. L., Martin, J. A., Storm, A. L., Burton, B. K., Saitta, S. C., Gajecka, M., Ballif, B. C., Irons, M. B., Shaffer, L. G. & Kimonis, V. E., Sep 1 2006, In : American Journal of Medical Genetics, Part A. 140, 17, p. 1876-1879 4 p.

Research output: Contribution to journalLetter

Speech Disorders
Developmental Disabilities
Gene Duplication
Chromosomes, Human, Pair 2
Preschool Children
1987
15 Citations (Scopus)

Sudden death associated with biotinidase deficiency.

Burton, B. K., Roach, E. S., Wolf, B. & Weissbecker, K. A., Mar 1 1987, In : Pediatrics. 79, 3, p. 482-483 2 p.

Research output: Contribution to journalLetter

Biotinidase Deficiency
Amidohydrolases
Heterozygote
Sudden Death