The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics
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Cites
Sickle Cell Anemia, a Molecular Disease
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A Specific Chemical Difference Between the Globins of Normal Human and Sickle-Cell Anæmia Hæmoglobin
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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
Metabolic Pathway Analysis: Basic Concepts and Scientific Applications in the Post-genomic Era
Schilling, C. H., Schuster, S., Palsson, B. O., & Heinrich, R. (1999) · Biotechnology Progress · doi:10.1021/bp990048k · Cited by 380
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Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease
Koprivica, V., Stone, D. L., Park, J. K., Callahan, M., Frisch, A., Cohen, I. J., Tayebi, N., & Sidransky, E. (2000) · The American Journal of Human Genetics · doi:10.1086/302925 · Cited by 334
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
Wilson, R. C. (1995) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.80.8.2322 · Cited by 324
The Long QT Syndrome: Ion Channel Diseases of the Heart
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Cited by
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Principles for the buffering of genetic variation
Hartman, J. L., Garvik, B., & Hartwell, L. (2001) · Science · doi:10.1126/science.1056072 · Cited by 808
Principles for the Buffering of Genetic Variation
Hartman IV, J. L. (2001) · Science · doi:10.1126/science.291.5506.1001 · Cited by 808
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1200395 · Cited by 621
Metadata
- Authors
- Dipple, K. M., & McCabe, E. R. B.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-06
- Volume
- 66
- Issue
- 6
- Pages
- 1729-1735
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1996824414
- Cited by
- 418
- References
- 34
- FWCI
- 24.49
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics. https://app.cochat.ai/papers/10.1086/302938
- The paper
- Dipple, K. M., & McCabe, E. R. B. (2000). Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics. The American Journal of Human Genetics. https://doi.org/10.1086/302938
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.
