The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease
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Citations
Cites
The human glucocerebrosidase gene and pseudogene: Structure and evolution
Horowitz, M., Wilder, S., Horowitz, Z., Reiner, O., Gelbart, T., & Beutler, E. (1989) · Genomics · doi:10.1016/0888-7543(89)90319-4 · Cited by 428
Monogenic traits are not simple: lessons from phenylketonuria
Scriver, C. R., & Waters, P. J. (1999) · Trends in Genetics · doi:10.1016/s0168-9525(99)01761-8 · Cited by 420
Nilsson, O., & Svennerholm, L. T. (1982) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1982.tb07950.x · Cited by 283
3 Gaucher's disease: clinical features and natural history
Cox, T. M., & Schofield, J. P. (1997) · Baillière s Clinical Haematology · doi:10.1016/s0950-3536(97)80033-9 · Cited by 260
Hematologically important mutations: Gaucher disease
Beutler, E., Gelbart, T., & Scott, C. R. (2005) · Blood Cells, Molecules, and Diseases · doi:10.1016/j.bcmd.2005.07.005 · Cited by 241
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., & Sidransky, E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200002)15:2<181::aid-humu7>3.0.co;2-s · Cited by 224
Self-citationAbrahamov, A., Elstein, D., Zimran, A., Farber, B., Glaser, Y., Gross-Tsur, V., Hadas-Halpern, I., Ronen, S., Horowitz, M., & Tafakjdi, M. (1995) · The Lancet · doi:10.1016/s0140-6736(95)91688-1 · Cited by 212
Gaucher Disease: Gene Frequencies and Genotype/Phenotype Correlations
GRABOWSKI, G. A. (1997) · Genetic Testing · doi:10.1089/gte.1997.1.5 · Cited by 163
Mutations in Jewish patients with Gaucher disease
Beutler, E., Gelbart, T., Kühl, W., Zimran, A., & West, C. (1992) · Blood · doi:10.1182/blood.v79.7.1662.1662 · Cited by 144
2 Gaucher's disease: molecular, genetic and enzymological aspects
Grabowski, G. A., & Horowitz, M. (1997) · Baillière s Clinical Haematology · doi:10.1016/s0950-3536(97)80032-7 · Cited by 141
Cited by
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
Hruska, K. S., LaMarca, M. E., Scott, C. R., & Sidransky, E. (2008) · Human Mutation · doi:10.1002/humu.20676 · Cited by 678
Self-citationReduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease
Murphy, K. E., Gysbers, A. M., Abbott, S. K., Tayebi, N., Kim, W. S., Sidransky, E., Cooper, A., Garner, B., & Halliday, G. M. (2014) · Brain · doi:10.1093/brain/awt367 · Cited by 475
Self-citationIdentification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease
Maegawa, G. H. B., Tropak, M. B., Buttner, J. D., Rigat, B. A., Fuller, M., Pandit, D., Tang, L., Kornhaber, G. J., Hamuro, Y., Clarke, J. T. R., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.012393 · Cited by 332
GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
Riboldi, G. M., & Di Fonzo, A. B. (2019) · Cells · doi:10.3390/cells8040364 · Cited by 274
TFEB regulates lysosomal proteostasis
Song, W., Wang, F., Savini, M., Ake, A., di Ronza, A., Sardiello, M., & Segatori, L. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt052 · Cited by 143
Metadata
- Authors
- Koprivica, V., Stone, D. L., Park, J. K., Callahan, M., Frisch, A., Cohen, I. J., Tayebi, N., & Sidransky, E.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-06
- Volume
- 66
- Issue
- 6
- Pages
- 1777-1786
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2073592988
- Cited by
- 334
- References
- 25
- FWCI
- 6.61
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease. https://app.cochat.ai/papers/10.1086/302925
- The paper
- Koprivica, V., Stone, D. L., Park, J. K., Callahan, M., Frisch, A., Cohen, I. J., Tayebi, N., & Sidransky, E. (2000). Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease. The American Journal of Human Genetics. https://doi.org/10.1086/302925
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
