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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

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Projects 2007 2020

Research Output 1977 2019

1 Citation (Scopus)

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
2 Citations (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., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 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
Noonan Syndrome
Neurofibromatoses
Neurofibromatosis 1
Siblings
Attention Deficit Disorder with Hyperactivity

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