Barbara K Burton

  • 6298 Citations
1973 …2019
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Research Output 1973 2019

Filter
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., Kim, K., 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
17 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
2 Citations (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., Apr 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., Mar 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., May 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
60 Citations (Scopus)

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment

Levy, H., Burton, B., Cederbaum, S. & Scriver, C., Dec 2007, In : Molecular Genetics and Metabolism. 92, 4, p. 287-291 5 p.

Research output: Contribution to journalComment/debate

Phenylketonurias
Phenylalanine
Blood
Nutrition
Maternal Phenylketonuria