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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.

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

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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

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., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree

Including ELSI research questions in newborn screening pilot studies

for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network, Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 525-533 9 p.

Research output: Contribution to journalArticle

Newborn Infant
Research
Bioethics
Translational Medical Research
Parents
2 Citations (Scopus)

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Ng, B. G., Xu, G., Chandy, N., Steyermark, J., Shinde, D. N., Radtke, K., Raymond, K., Lebrilla, C. B., AlAsmari, A., Suchy, S. F., Powis, Z., Faqeih, E. A., Berry, S. A., Kronn, D. F. & Freeze, H. H., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Fucosyltransferases
Mutation
Polysaccharides
Exome
7 Citations (Scopus)

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Members of the Urea Cycle Disorders Consortium, Jul 1 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 657-667 11 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia