The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
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The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling
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Human non-synonymous SNPs: server and survey
Ramensky, V. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,280
NPS@: Network Protein Sequence Analysis
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Intraflagellar transport is essential for endochondral bone formation
Haycraft, C. J., Zhang, Q., Song, B., Jackson, W. S., Detloff, P. J., Serra, R., & Yoder, B. K. (2007) · Development · doi:10.1242/dev.02732 · Cited by 408
Nosology and classification of genetic skeletal disorders: 2006 revision
Superti‐Furga, A., Unger, S., & and the Nosology Group of the International Skeletal Dysplasia Society (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31483 · Cited by 348
Beales, P. L., Bland, E., Tobin, J. L., Bacchelli, C., Tuysuz, B., Hill, J., Rix, S., Pearson, C. G., Kai, M., Hartley, J., et al. (2007) · Nature Genetics · doi:10.1038/ng2038 · Cited by 339
Cytoplasmic Dynein Heavy Chain 1b Is Required for Flagellar Assembly in Chlamydomonas
Porter, M. E., Bower, R., Knott, J. A., Byrd, P., & Dentler, W. (1999) · Molecular Biology of the Cell · doi:10.1091/mbc.10.3.693 · Cited by 333
Genetic Analysis of the Cytoplasmic Dynein Subunit Families
Pfister, K. K., Shah, P. R., Hummerich, H., Russ, A., Cotton, J., Annuar, A. A., King, S. M., & Fisher, E. M. C. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020001 · Cited by 310
Structure and Functional Role of Dynein's Microtubule-Binding Domain
Carter, A. P., Garbarino, J. E., Wilson-Kubalek, E. M., Shipley, W. E., Cho, C., Milligan, R. A., Vale, R. D., & Gibbons, I. R. (2008) · Science · doi:10.1126/science.1164424 · Cited by 248
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Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824
Primary Cilia and Mammalian Hedgehog Signaling
Bangs, F., & Anderson, K. V. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028175 · Cited by 642
Braun, D. A., & Hildebrandt, F. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028191 · Cited by 391
Making sense of cilia in disease: The human ciliopathies
Baker, K., & Beales, P. L. (2009) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30231 · Cited by 349
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.08.004 · Cited by 278
Metadata
- Authors
- Dagoneau, N., Goulet, M., Geneviève, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., & Cormier-Daire, V.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2009-05
- Volume
- 84
- Issue
- 5
- Pages
- 706-711
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2040141661
- Cited by
- 255
- References
- 14
- FWCI
- 11.41
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III. https://app.cochat.ai/papers/10.1016/j.ajhg.2009.04.016
- The paper
- Dagoneau, N., Goulet, M., Geneviève, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., & Cormier-Daire, V. (2009). DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2009.04.016
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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.