Amy Yang

Assistant Professor

  • 307 Citations
  • 9 h-Index
20112018
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Fingerprint Dive into the research topics where Amy Yang is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Mutation Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Heterozygote Medicine & Life Sciences
Genes Medicine & Life Sciences
Dolichol Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Uniparental Disomy Medicine & Life Sciences

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Research Output 2011 2018

  • 307 Citations
  • 9 h-Index
  • 13 Article
  • 1 Chapter
  • 1 Letter
  • 1 Review article
9 Citations (Scopus)

Parkinson's disease prevalence in Fabry disease: A survey study

Wise, A. H., Yang, A., Naik, H., Stauffer, C., Zeid, N., Liong, C., Balwani, M., Desnick, R. J. & Alcalay, R. N., Mar 1 2018, In : Molecular Genetics and Metabolism Reports. 14, p. 27-30 4 p.

Research output: Contribution to journalArticle

Open Access
Fabry Disease
Parkinson Disease
Medicine
Galactosidases
alpha-Galactosidase
2 Citations (Scopus)

Persistent tryptase elevation in a patient with Gaucher disease

Schussler, E., Yang, A., Lyons, J. J., Milner, J. D. & Wang, J., Mar 1 2018, In : Journal of Allergy and Clinical Immunology: In Practice. 6, 2, p. 697-699 3 p.

Research output: Contribution to journalArticle

Tryptases
Gaucher Disease
10 Citations (Scopus)

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Wasserstein, M. P., Caggana, M., Bailey, S. M., Desnick, R. J., Edelmann, L., Estrella, L., Holzman, I., Kelly, N. R., Kornreich, R., Kupchik, S. G., Martin, M., Nafday, S. M., Wasserman, R., Yang, A., Yu, C. & Orsini, J. J., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Lysosomal Storage Diseases
Newborn Infant
Public Health
Urban Hospitals
Tandem Mass Spectrometry
3 Citations (Scopus)

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening

Yang, A., Bier, L., Overbey, J. R., Cohen-Pfeffer, J., Desai, K., Desnick, R. J. & Balwani, M., Jun 1 2017, In : Genetics in Medicine. 19, 6, p. 652-658 7 p.

Research output: Contribution to journalArticle

Gaucher Disease
Pediatrics
Mutation
Hepatomegaly
Splenomegaly
1 Citation (Scopus)

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome

Karger, L., Khan, W. A., Calabio, R., Singh, R., Xiang, B., Babu, A., Cohen, N., Yang, A. & Scott, S. A., May 1 2017, In : American Journal of Medical Genetics, Part A. 173, 5, p. 1436-1439 4 p.

Research output: Contribution to journalLetter

Uniparental Disomy
Prader-Willi Syndrome
Chromosomes, Human, Pair 15
Mothers
Deafness, Sensorineural, And Male Infertility