Barbara K Burton

  • 6080 Citations
1973 …2019
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Research Output 1973 2019

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Comment/debate
2019

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B. K., Kim, K. H., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Aug 1 2019, In : Genetics in Medicine. 21, 8, 1 p.

Research output: Contribution to journalComment/debate

Medicine
Phenotype
2017
4 Citations (Scopus)

Erratum: De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype (American Journal of Human Genetics (2016) 99(4) (991–999)(S0002929716303718)(10.1016/j.ajhg.2016.08.017))

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M. & 14 others, Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Jan 5 2017, In : American Journal of Human Genetics. 100, 1, 1 p.

Research output: Contribution to journalComment/debate

Medical Genetics
Phenotype
15 Citations (Scopus)

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

Clarke, L. A., Atherton, A. M., Burton, B. K., Day-Salvatore, D. L., Kaplan, P., Leslie, N. D., Scott, C. R., Stockton, D. W., Thomas, J. A. & Muenzer, J., Mar 1 2017, In : Journal of Pediatrics. 182, p. 363-370 8 p.

Research output: Contribution to journalComment/debate

Mucopolysaccharidosis I
Practice Management
Practice Guidelines
2014
1 Citation (Scopus)

Erratum: Phenylalanine hydroxylase deficiency: Diagnosis and management guideline (Genetics in Medicine (2014) 16:2 (188-200) DOI:10.1038/gim.2013.157)

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Jan 1 2014, In : Genetics in Medicine. 16, 4, 1 p.

Research output: Contribution to journalComment/debate

Phenylketonurias
Medicine
Guidelines
2007

A 4-month-old boy being evaluated for splenomegaly and pancytopenia

Listernick, R., Chaleff, S., Sundaram, S., Katz, B., Burton, B., Cohn, R., Chou, P. & Morgan, E., Jan 1 2007, In : Pediatric Annals. 36, 3, p. 130-134 5 p.

Research output: Contribution to journalComment/debate

Hemophagocytic Lymphohistiocytosis
Pancytopenia
Splenomegaly

A 9-year-old boy with labored breathing

Listernick, R., Thompson, A., Burton, B., Cohn, R., Goldstein, J., Zimmerman, D., Epstein, L. & Franklin, W., Jan 1 2007, In : Pediatric Annals. 36, 5, p. 254-257 4 p.

Research output: Contribution to journalComment/debate

Kearns-Sayre Syndrome
Glycosuria
Lactic Acidosis
Hyperglycemia
Dyspnea