If you made any changes in Pure, your changes will be visible here soon.

Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

  • 2 Similar Profiles
Inborn Urea Cycle Disorder Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Growth Hormone Medicine & Life Sciences
Inborn Errors Metabolism Medicine & Life Sciences
Urea Chemical Compounds
Mutation Medicine & Life Sciences
Serine Proteinase Inhibitors Medicine & Life Sciences
Messenger RNA Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2007 2020

Research Output 1977 2019

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S. A., Gail Summers, C. & Mukherjee, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Open Access
Retinal Dystrophies
Optic Atrophy
Microcephaly
Missense Mutation
Optic Nerve
1 Citation (Scopus)

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A. O., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Inborn Urea Cycle Disorder
Rare Diseases
Industry
National Institutes of Health (U.S.)
Orphan Drug Production

Foundation of the Newborn Screening Translational Research Network and its tools for research

Lloyd-Puryear, M., Brower, A., Berry, S. A., Brosco, J. P., Bowdish, B. & Watson, M. S., Jun 1 2019, In : Genetics in Medicine. 21, 6, p. 1271-1279 9 p.

Research output: Contribution to journalReview article

Translational Medical Research
Newborn Infant
Research
Research Personnel
Rare Diseases

Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 1 2019, In : Pediatrics. 143, 5, Y.

Research output: Contribution to journalReview article

Open Access
Neurofibromatosis 1
Inheritance Patterns
Health
Peripheral Nervous System
Growth and Development