The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Mutations in MKKS cause Bardet-Biedl syndrome
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Citations
Cites
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Beales, P. L., Elcioglu, N., Woolf, A. S., Parker, D., & Flinter, F. A. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.6.437 · Cited by 969
The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome
Green, J. S., Parfrey, P. S., Harnett, J. D., Farid, N. R., Cramer, B. C., Johnson, G., Heath, O., McManamon, P. J., O'Leary, E., & Pryse-Phillips, W. (1989) · New England Journal of Medicine · doi:10.1056/nejm198910123211503 · Cited by 555
Self-citationSheffield, V. C., Carml, R., Kwltek-Black, A., Rokhlina, T., Nishlmura, D., Duyk, G. M., Elbedour, K., Sunden, S. L., & Stone, E. M. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.8.1331 · Cited by 220
Self-citationMutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
Stone, D. L., Slavotinek, A., Bouffard, G. G., Banerjee-Basu, S., Baxevanis, A. D., Barr, M., & Biesecker, L. G. (2000) · Nature Genetics · doi:10.1038/75637 · Cited by 203
Self-citationUse of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Carmi, R., Rokhlina, T., Kwitek-Black, A. E., Elbedour, K., Nishimura, D., Stone, E. M., & Sheffield, V. C. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.1.9 · Cited by 184
Self-citationBardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous
Leppert, M., Baird, L., Anderson, K. L., Otterud, B., Lupski, J. R., & Lewis, R. A. (1994) · Nature Genetics · doi:10.1038/ng0594-108 · Cited by 180
Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., & Sheffield, V. C. (1993) · Nature Genetics · doi:10.1038/ng1293-392 · Cited by 177
Self-citationA Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31
Young, T., Penney, L. S., Woods, M. O., Parfrey, P. S., Green, J. S., Hefferton, D., & Davidson, W. S. (1999) · The American Journal of Human Genetics · doi:10.1086/302301 · Cited by 127
Self-citationBruford, E. A., Riise, R., Teague, P., Porter, K., Thomson, K. L., Moore, A. T., Jay, M., Warburg, M., Schinzel, A., Tommerup, N., et al. (1997) · Genomics · doi:10.1006/geno.1997.4613 · Cited by 125
Cited by
The Ciliopathies: An Emerging Class of Human Genetic Disorders
Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May-Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., et al. (2004) · Cell · doi:10.1016/s0092-8674(04)00450-7 · Cited by 760
Self-citationMultiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly
Ming, J. E., & Muenke, M. (2002) · The American Journal of Human Genetics · doi:10.1086/344412 · Cited by 313
Hearn, T., Renforth, G. L., Spalluto, C., Hanley, N. A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J. F. N., Russell-Eggitt, I., et al. (2002) · Nature Genetics · doi:10.1038/ng874 · Cited by 309
Metadata
- Authors
- Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C., & Biesecker, L. G.
- Venue
- Nature Genetics
- Published
- 2000-09-01
- Volume
- 26
- Issue
- 1
- Pages
- 15-16
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1552907768
- Cited by
- 275
- References
- 9
- FWCI
- 11.87
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in MKKS cause Bardet-Biedl syndrome. https://app.cochat.ai/papers/10.1038/79116
- The paper
- Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C., & Biesecker, L. G. (2000). Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genetics. https://doi.org/10.1038/79116
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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.
