The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
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Citations
Cites
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
Siepel, A., Bejerano, G., Pedersen, J. S., Hinrichs, A. S., Hou, M., Rosenbloom, K., Clawson, H., Spieth, J., Hillier, L. W., Richards, S., et al. (2005) · Genome Research · doi:10.1101/gr.3715005 · Cited by 3,971
Savage, S. A., Giri, N., Baerlocher, G. M., Orr, N., Lansdorp, P. M., & Alter, B. P. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.004 · Cited by 414
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S. (2003) · Blood · doi:10.1182/blood-2003-01-0335 · Cited by 301
Therapy-related leukemia and myelodysplasia: susceptibility and incidence
Leone, G., Pagano, L., Ben-Yehuda, D., & Voso, M. T. (2007) · Haematologica · doi:10.3324/haematol.11034 · Cited by 236
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions
Ambrose, M., & Gatti, R. A. (2013) · Blood · doi:10.1182/blood-2012-09-456897 · Cited by 196
Cited by
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients
Bluteau, O., Sebert, M., Leblanc, T., Peffault de Latour, R., Quentin, S., Lainey, E., Hernandez, L., Dalle, J.-H., Sicre de Fontbrune, F., Lengline, E., et al. (2018) · Blood · doi:10.1182/blood-2017-09-806489 · Cited by 355
Ripperger, T., Bielack, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K., Deubzer, H., Dirksen, U., Eckert, C., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38142 · Cited by 283
Metadata
- Authors
- Chen, D.-H., Below, J. E., Shimamura, A., Keel, S. B., Matsushita, M., Wolff, J., Sul, Y., Bonkowski, E., Castella, M., Taniguchi, T., Nickerson, D., Papayannopoulou, T., Bird, T. D., & Raskind, W. H.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2016-06
- Volume
- 98
- Issue
- 6
- Pages
- 1146-1158
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2410168491
- Cited by
- 178
- References
- 5
- FWCI
- 11.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. https://app.cochat.ai/papers/10.1016/j.ajhg.2016.04.009
- The paper
- Chen, D.-H., Below, J. E., Shimamura, A., Keel, S. B., Matsushita, M., Wolff, J., Sul, Y., Bonkowski, E., Castella, M., Taniguchi, T., Nickerson, D., Papayannopoulou, T., Bird, T. D., & Raskind, W. H. (2016). Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.04.009
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.
